Property Summary

NCBI Gene PubMed Count 812
PubMed Score 2259.44
PubTator Score 1976.31

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
psoriasis 2.000 5.0e-05
ovarian cancer -1.500 4.6e-09

Protein-protein Interaction (16)

Gene RIF (758)

PMID Text
27013479 In Lynch syndrome families, prostate cancer was associated with mutations in MLH1 with loss of the mismatch repair protein.
26823831 The DNA methylation of both Reprimo and hMLH1 genes depressed the protein expression, and may participate in the occurrence and progression and gastric cancer
26810771 DAPK-1 and MLH1 methylation correlated inversely in tumors in the middle-third of the stomach
26761715 our results revealed an unexpected high number of splicing mutations in the exon 10 of MLH1, most of which affecting potential ESRs, and confirmed the predictive power of DeltatESRseq- and DeltaHZEI-based approaches for pinpointing this type of mutations
26728996 data supported an interdependence of mismatch repair proteins, particularly MLH1 and MSH2, in the mediation of apoptosis in human colorectal carcinoma cell lines
26724419 Study shows an association between MLH1 rs1800734 polymorphism and gastric cancer risk contributing to the MSI phenotype in cancer cells.
26544533 Heterozygous germline mutations in any of the mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2, cause Lynch syndrome (LS), an autosomal dominant cancer predisposition syndrome.
26512054 MLH1 Promoter Region Methylation is associated with colorectal cancer.
26477961 Pathogenic mutations were only confined to MLH1 and identified in 28.8% of Singapore families with Hereditary Colorectal Cancer.
26392358 Data indicate tumor suppressors TP73, RASSF1A, MLH1 and BRCA1 as possible biomarkers to distinguish Pleomorphic invasive lobular cancer (pleomorphic ILC} from classic ILC and infiltrative ductal cancer (IDC).
26275295 study provided evidence that the -93G>A polymorphism in hMLH1 is associated with a significant risk of developing ovarian cancer in the Chinese population
26249686 The crystal structure of the human MLH1 N-terminus has been resolved suggesting an apparent predisposition to Lynch syndrome.
26224637 MutSalpha, proliferating cell nuclear antigen, and replication factor C activate MutLalpha endonuclease to remove the 1-nucleotide Okazaki fragment flaps
26191250 cisplatin-based adjuvant chemotherapy is more beneficial for non-small cell lung cancer patients without hMLH1 methylation. hMLH1 methylation may have a potential to become a biomarker of individualized therapy for NSCLC patients.
26185030 The pattern of mutations of IDH1, TP53 and MLH1 could play a role in the development and progression of radiation-induced glioma.
26149658 mutation is located in a region coding for the functional domain for the interaction with MLH3/PMS1/PMS2. As some clinical aspects of the disorder have been shown to be associated with certain mutations
26121593 hMLH1 may have a role in gastric cancer prognosis and survival
26101330 MLH1 carriers appear to be at moderate risk of breast cancer and should be considered for breast screening at ages earlier than national screening programmes.
26097592 Loss of MLH-1/PMS-2 expression was associated with right-colon location, poor and mucinous differentiation and dense lymphocytic infiltration in colorectal adenocarcinoma.
26096739 The study presents multivariate analysis as a method for evaluating the pathogenicity of novel genetic MLH1 variants in patients with colorectal cancer and microsatellite instability.
26053027 This retrospective cohort study investigated the risk factors associated with the development of colorectal cancer in patients with MLH1 and MSH2 germline mutations.
25986311 Mutation in MLH1 rs63750447 predicted a higher risk for colorectal cancer.
25908759 In Lynch syndrome screening, MLH1 constitutional epimutation analysis should be conducted only for patients who fulfil the revised Bethesda guidelines and who lack MLH1 expression with methylated MLH1.
25908636 expression and promoter methylation status in colon adenocarcinoma
25871621 Report high frequency of MLH1 germline mutations in Lynch syndrome patients with colorectal and endometrial carcinoma demonstrating isolated loss of PMS2 immunohistochemical expression.
25804231 These results suggest that the -93G>A polymorphism of the MLH1 gene singly and in combination with the Gly322Asp polymorphism of the MSH2 gene may increase the risk of endometrial cancer.
25791328 DNA methylation status of the hTERT and MLH1 gene promoters are promising markers for screening a set of smoking-related alterations in oral cells.
25762362 Our findings provide further evidence of the potential importance of noncoding variants in the MLH1 5'UTR in the pathogenesis of Lynch syndrome.
25742745 The evidences obtained highlight how MLH1 mutations and epimutations can reciprocally influence each other and suggest that an altered structure of the MLH1 locus results in epigenetic alteration.
25664706 When controlling for surgical and pathologic factors, mismatch repair protein expression did not predict lymph node yield after colectomy for Colon cancer .
25598504 Our data present, for the first time, evidence that inherited MLH1 c.-93G>A, MSH2 c.211 + 9C>G, MSH3 c.3133G>A, and EXO1 c.1765G>A abnormalities of DNA MMR pathway are important determinants of head and neck squamous cell carcinoma
25596266 These data indicate that MLH1 genotype is a predictor of failure to benefit from rituximab-cyclophosphamide-doxorubicin-vincristine-prednisone treatment in advanced follicular lymphoma.
25576161 The use of CMETH2(p16 and hMLH1 ) could help in the election of the best therapeutic alternative for CCR patients with MSI tumors
25561800 Report mutations in SNP loci of MLH1 in neoplastic intestinal polyps and colorectal cancer.
25560462 Intronic SNPs, gene-gene and gene-environment interactions in hMSH2/hMLH1 might be associated with susceptibility to colorectal cancer.
25557234 Somatic MLH1 promoter methylation occurs in up to 15 percent of Lynch syndrome colorectal cancer.
25528216 found that SETD2 mutation also mediated MMR via AKT-induced PMS2 decrease and co-loss of MLH1 loss in renal clear cell carcinoma
25526032 Results demonstrate MLH1 protects against PCa development by inducing c-Abl-mediated apoptosis.
25421847 These results indicate that individuals, and particularly females, carrying the A-allele at the MLH1-93G/A single nucleotide polymorphism, may harbor an increased risk of methylation of the MLH1 promoter region.
25280751 Quantitative MLH1 promoter region methylation using pyrosequencing is superior to BRAF codon 600 mutation status in identifying constitutional mutations in mismatch repair deficient tumours.
25252713 Results suggest that the genetic variation in MLH1 rs1800734 was among the risk factors associated with increased acute skin toxicity in patients receiving radiation therapy after breast-conserving surgery.
25216868 Among all the 32 families with mutations, families with hMSH2 mutation had a higher ratio of synchronous and metachronous colon cancers than families with hMLH1 mutation (33 vs. 6%, P=0.04).
25215298 Our results showed that the expression of MLH1, one of the important MMR proteins, was decreased early and maintained the downregulation during the transformation in a histone modification
25200962 A>G substitution (ATC/GTC), in heterozygous condition, that led to a substitution of an isoleucine with a valine at codon 219 (I219V)is associated with HNPCC.
25133505 The study evaluates the frequency and distribution of mutations in the MLH1, MSH2 and MSH6 genes within a cohort of families with Lynch syndrome in Cyprus.
25115745 Studied the expression pattern and effect of the -93G>A polymorphism in the MLH1 gene in normal and tumour samples from patients with colorectal cancer.
25107687 A new mutation in MLH1 (g.31276_35231del) was identified in Hungarian hereditary non-polyposis colorectal cancer patients.
25083964 Some uterine carcinosarcomas show loss of MLH1.
25047469 hMLH1 -93G>A promoter polymorphism is associated with oral squamous cell carcinoma.
24995467 immunohistochemical expression of MLH1, MSH2, and MSH6 in initial glioblastoma is not associated with patient survival
24990217 hMLH1/hMSH2 gene mutations and hMLH1 promoter methylation is not associated with colorectal cancer.
24989436 Our database and literature searches retrieved 30 MLH1, 22 MSH2, 4 MSH6 and 9 PMS2 alternative transcripts, many predicted to introduce premature termination codons
24971578 Loss of Mlh1 activity reduces both intergenerational and somatic GAA repeat expansions.
24966277 FANCJ-MLH1 interaction is important for DNA damage responses.
24964857 Results suggest tha tthe pathological progression from Serrated adenoma through colon carcinoma required the successive events: mutations in BRAF protein, hypermethylation of MLH1 then hypermethylation in AXIN2.
24938706 Aberrant DNA methylation of MGMT and hMLH1 were detected. The proportions of DNA hypermethylation in MGMT and hMLH1 in cancer tissues were significantly higher than those in remote normal-appearing tissues.
24874052 Data indicate that eight of 44 (18 %) patients had negative MLH1 protein expression and 25/44 (57 %) patients had negative MSH2 pprotein expression.
24811117 clinical criteria for Lynch syndrome have been identified subjects with cancer and MLH1 mutation and other younger family members with the mutation but without cancer.
24802709 Eleven apparently unrelated index cases undergoing genetic analysis for suspected Lynch syndrome were found to carry the same mutation in the last exon of MLH1.
24793746 Polymorphisms located at MLH1 (MLH1 -93G>A and IVS3-1403A>T) were significantly associated with colorectal cancer survival, especially colon cancer survival in Northeastern China.
24748501 MLHi methylation is associated with docetaxel resistance in gastric cancer.
24743384 The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals.
24643686 Immunohistochemistry revealed loss of expression for MLH1, MSH2, MSH6, and PMS2 in 15, 21, 13, and 15 % of cases, respectively...we found a perfect association between MMR immunohistochemical analyses and MSI molecular investigation
24595079 The MLH1 I219V polymorphism was associated with colorectal cancer susceptibility. Stratified data analysis for gender demonstrated association of AG and GG genotypes with risk of colorectal cancer in women.
24456667 aggressiveness of MLH1-positive colorectal cancers might be related to SPTAN1.
24444820 MLH1 expression in endometrial carcionma was associated with BMI, however a link between BMI and maintenance of the DNA mismatch repair system is not supported.
24400091 Promoter methylation of MLH1, PMS2, MSH2 and p16 is a phenomenon of advanced-stage HCCs.
24360395 The frequency of promoter hypermethylation found on this DNA repair gene was elevated
24333619 Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors.
24329813 The present results showed changes in the immunoexpression of hMLH1, MDM2, and p63 in epithelial cells from premalignant and malignant lip disease, supporting the hypothesis that these alterations are related to the process of lower lip carcinogenesis.
24323032 Data show that endometrial cancer screened by testing for tumor MLH1 methylation in individuals with MLH1 immunohistochemistry loss, and germline mutations exhibiting loss of MSH6, MSH2, or PMS2 or loss of MLH1/PMS2 with absence of MLH1 methylation.
24317816 promoter hypermethylation of hMLH1 and hMSH2 genes may be one of the causes of inactivation of these genes in sporadic colorectal cancer.
24308239 These results indicate that there is a possible involvement of MLH1 gene in the progression and development of breast cancer.
24302565 Two cancer syndrome gene variants likely to affect native translation initiation were identified by clinical genetic testing: MLH1:c.1A>G p.(Met1?) and BRCA2:c.67+3A>G.
24259277 MLH1 or PMS2 knockdown confered TMZ resistance. In recurrent GBM tumours, the expression of MLH1 and PMS2 was reduced when compared to primary tumours.
24205245 Overexpression of hMLH1 could be a new molecular marker to predict the response to EGFR-TKIs in NSCLCs.
24165159 GLI1 expression was immunohistochemically related positively with BHLHE41 and inversely with MLH1 in PDAC cells and precancerous lesions of the pancreas.
24122742 MLH1 patients presented more frequently with only CRC.
24090359 The in silico analysis predicted altered splicing for MLH1 c.588 + 5G > A, MLH1 c.677 + 3A > T, MLH1 c.1039-8 T > A, MLH1 c.1732-2A > T,whereas MLH1 c.117-34A > T were predicted to have no effect on splicing.
24084575 the MLH1 c.-27C>A and c.85G>T variants are borne on a European ancestral haplotype and provide conclusive evidence for its pathogenicity via a mechanism of epigenetic silencing of MLH1 within normal tissues.
24073290 Loss of MLH1 expression with MLH1 promoter hypermethylation and MLH1-93G>A promoter polymorphism was associated with malignant astrocytomas.
24035280 These results indicated a possible effect of SIRT1 and p300/CBP involved in regulating the expression of E-cadherin and MLH1, thus participating in the tumor progression of gastroesophageal junction cancer
24027018 MLH1 inactivation through hypermethylation was found to be related to improved survival. Hypermethylation in promoter region C and intron 1 served as the most specific markers for this inactivation.
24022108 Hypermethylation of hMLH1 is associated with gastric cancer.
24004112 Alterations of hMLH1 and MGMT appear important for tumour progression and survival in basal-like breast cancer patients.
23935509 Using the MLH1 tumor suppressor gene as a model, we showed that decitabine-induced re-expression was dependent upon demethylation and eviction of promoter nucleosomes
23888949 no single clinical/pathologic feature or screening criteria tool accurately identified all Lynch Syndrome-associated endometrial carcinomas, highlighting the importance of the MLH1 methylation assay in the clinical evaluation of these patients
23880961 Endometrial tumour MLH1 promoter methylation
23865379 changes in the immunoexpression of mismatch proteins MLH1 and MSH2 are related to the process of squamous cell carcinogenesis of the lower lip
23817394 The aim of the study was to determine the local incidence and pattern of immunohistochemical expression of hMLH1, hMSH2 and hMSH6 in a series of colorectal carcinomas
23804521 deregulation of p16-associated, and MLH1-associated pathways, because of promoter hypermethylation, is associated with increased cancer cell migration, tumor invasiveness, and, thus, aggressive phenotype
23803092 Aberrant hypermethylation of hMLH1 is associated with gastric cancer.
23794306 Our study aimed to assess the frequency and molecular characteristics of the Lynch syndrome in Moroccan early-onset colorectal cancers patients.
23787767 Reduced expression of MLH1 is associated with laryngeal squamous cell carcinoma.
23727610 the hMLH1 -93 A>G polymorphism is associated with the higher risk of tobacco-related OSCC in Asian Indians and could be useful in screening population at a higher risk.
23716983 MGMT and MLH1 methylation did not occur in earlier-stage H. pylori infections and thus might depend on the duration of infection.
23712482 MLH1 c.1664T>C (p.Leu555Pro) is associated with the pathogenic cause of Lynch syndrome.
23672086 a precursor lesion with hMLH1 unmethylated status, a decrease in ER expression is important for the development of carcinogenesis, while progression of a lesion with hMLH1 methylated status is not affected by ER expression
23653048 in the absence of MLH1, HCT116 cells showed minor Chk1 phosphorylation and underwent apoptosis.
23643670 Mismatch-repair-proficient colorectal cancer cells at low extracellular pH show downregulation of hMLH1. Nevertheless, 5FdU:G was repaired to C:G in hMLH1-deficient cells cultured at both low & normal pH.
23640413 DNA methylation of MGMT, CDKN2A and MLH1 were more frequent in tumour than in matched normal tissues.
23621208 The results suggest an influence of MLH1 promoter polymorphism -93G>A in modulating susceptibility risk in Malaysian CRC patients, especially those with sporadic disease.
23587910 the hMLH1 -93G/A polymorphism is not a candidate for susceptibility to overall cancers, and that the hMLH1 1151T/A polymorphism is significantly associated with higher cancer risk in Asian populations.
23573243 Mutation spectrum and frequency of hMLH1 and hMSH2 genes in sporadic Lynch syndrome and colorectal cancer.
23555617 MLH1 promoter methylation may be significantly associated with gender, tumor location, tumor differentiation, MSI, MLH1 protein expression, and BRAF mutation.
23539435 UDownregulation of MLH1 is associated with non-small cell lung cancer.
23526924 The prevalence of mutations of MLH1 and MSH2 in Amsterdam-criteria positive, Amsterdam-criteria negative and sporadic colorectal cancers was around 45%, 25% and 15%, respectively. (review)
23523787 EZH2 can modulate the transcription of basally expressed hMLH1 (human mutL homolog 1 gene) via a non-DNA-methylation-dependent pathway.
23504373 High allelic loss of MLH1 correlates with non-small cell lung cancer diagnosis.
23434150 Data indicate no evidence that the SNPs associated with colorectal cancer (CRC) in the general population are modifiers of the risk for MLH1, MSH2, MSH6 and PMS2 MMR gene mutation carriers overall.
23412991 epigenetic silencing of MGMT and hMLH1, by promoter hypermethylation, might be involved in VCM-exposure- induced chromosome damage
23403630 Expression defects are frequent among MLH1 missense variants, but only severe defects cause Lynch syndrome.
23401454 Studies identified 21 deleterious mutations MLH1, MSH2, MSH6 and BRAF.
23374646 The variant MLH1 -93G>A appears to be related to cases with focal IHC activity more than to complete absence of the MLH1 protein in the tumour tissue.
23370766 microsatellite-unstable colorectal cancers of the same CpG island methylator phenotype status tended to exhibit different clinicopathological features depending on MLH1 methylation status.
23354017 The risk of cancer in families with LLS is lower that of families with Lynch syndrome but higher than that of families with sporadic CRC.
23329266 MLH1 splice site mutations are associated with increased risk of hereditary non-polyposis colorectal cancer.
23328702 Short-term folate supplementation in physiological doses decreases plasma homocysteine but has no effect on ESR1 and MLH1 methylation in colonic mucosa of individuals with adenoma.
23283390 there is a substantial increase in the number of MLH1 foci, a marker of most crossovers in mammals, which is related to the number of synapsed chromosomes in pachynema
23266441 MLH1-deficient gastric cancer tumors without MLH1 methylation were associated with a better clinical outcome than MLH1-deficient tumors with MLH1 methylation
23255516 study obtained unbiased estimates of colorectal cancer and endometrial cancer penetrance for MLH1 and MSH2 mutation carriers
23244153 DNA hypermethylation of MLH1 gene is associated with esophageal squamous cell carcinoma.
23240038 this novel study has demonstrated associations between SNP variants at 3p21 with methylation at a CpG island shore of MLH1 in peripheral blood cells of 1,100 population-based controls and CRC patients
23226285 The MLH1 -93G>A polymorphism may contribute to individual susceptibility to colorectal cancer and act as a risk factor for microsatellite instability-colorectal cancer.
23155252 Exon 2 methylation is not likely to influence MLH1 gene expression in colorectal cancer
23149851 Defective hMLH1 expression is associated with early gastric carcinoma.
23143558 Expression of MLH1 mRNA correlates with serum estradiol level in colon cancer tissue.
23100212 The novel nonsense germline point mutation c.392C>G in the codon 131 of MLH1(S131X) was identified as the underlying genetic cause of Lynch syndrome.
23098428 hMLH1 hypermethylation is strongly associated with gastric carcinoma .
23086927 The resolution of clustered short slip-outs, which are poorly repaired, was partially dependent upon a functional hMutLalpha.
23073540 Arsenic exposure and methylation efficiency in women in the Argentinean Andes were assessed from concentrations of arsenic metabolites in urine. Methylation of CpGs of the p16, MLH1, and the repetitive elements LINE1 was measured by PCR of blood DNA.
23060557 The 1219Val-carrying genotype of MLH1 was frequent in the studied population; however, it does not appear to exert any modifier effect on MLH1 or MSH2 pathogenic mutations and the development of colorectal cancer.
23017166 Data show no evidence for deleterious mutations in PMS2, and suggest that findings are sufficient to exclude PMS2 as a gene for mutation testing in individuals with suspected LS based on tumoral loss of both MLH1 and PMS2 expression.
22992699 MLH1 promoter methylation is the molecular basis for at least a subset of microsatellite instable breast tumors.
22987381 Our study showed that MSI-H phenotype was mucinous, right-side and exhibit stade III of TNM. The relative correlation of MLH1 expression and promotor hypermethylation of hMLH1 for the MSI status is similar to that reported for several study
22987364 Modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers are associated with colorectal cancer.
22940821 the possible association of hMLH1 hypermethylation with lower uterine segment (LUS) cancer demonstrated in this study suggests a worse prognosis for LUS cancer associated with Lynch syndrome
22930430 Hypermethylation of the promoter of hMLH1 is an epigenetic change in meningiomas and is associated with the tumor grade, while microsatellite instability is an uncommon event in meningiomas.
22899370 MLH1 expression status and frequencies of APC, KRAS, and BRAF mutation in colorectal carcinoma may provide a useful diagnostic tool that could supplement the standard microsatellite instability assays and influence therapeutic decisions.
22883484 Lynch Syndrome patients with MLH1 mutation had a higher rate of bladder cancer than the general population.
22878509 Although rare, sequence changes in the regulatory region of MLH1 and aberrant methylation may alone or together predispose to the development of cancer.
22865300 Findings show that MMR mRNA phenotypes may be added to the known biological differences between SQC and ADC. hMLH1 and hMSH2 phenotypes distributed differently according to the NSCLC stage.
22864660 MLH1 founder mutation is associated with significant proportion of Lynch syndrome and lower risk for extracolonic cancers.
22843073 A possible association of MLH1 -93G>A and 655A>G and XRCC1 Arg194Trp and Arg399Gln polymorphisms with colorectal cancer in Mexican patients, was investigated.
22776989 MLH1 mutation with microsatellite instability is associated with new cases of Lynch syndrome.
22773173 the MLH1 p.Arg182Gly (c.544A>G) change causes Lynch syndrome and supports reclassification of the variant as pathogenic
22766992 Aberrant splicing caused by a MLH1 splice donor site mutation is associated with Lynch syndrome.
22753075 MLH1 missense variants identified in Lynch syndrome patients have functional defects in either subcellular localization or protein-protein interactions.
22740444 loss of MLH1 protein in hematopoietic stem and progenitor cells is associated with microsatellite instability resulting in aging.
22736432 Five MLH1 VUS were classified as pathogenic: c.[248G>T(;)306G>C], c.[780C>G;788A>C], and c.791-7T>A affected mRNA processing, whereas c.218T>C (p.L73P) and c.244A>G [corrected] (p.T82A) impaired MMR activity.
22669205 In 76 patients with colorectal neoplasms, one missense mutation was identified in MLH1. 7 patients had multiple mutations, MHL1 and APC.
22635031 Loss of hMLH1 is associated with endometrial cancer.
22631669 meta-analysis from 33 published case-control studies showed the variant A allele of -93G>A polymorphism to be associated with increased cancer risk in all genetic models, especially among non-Asians; for the I219V polymorphism, there was no main effect associated with overall cancer risk
22626277 The immunological expression of hMLH1 and hMLH2 protein decreased in the following order: endometriosis> ovarian carcinoma accompanied by endometriosis > solitary ovarian carcinoma.
22552371 data showed that hMLH1 methylation with a consequent protein decrease occurred early during endometrial carcinoma tumorigenesis and may cause a microsatellite instability phenotype, which occurs relatively late
22502664 MLH1 promoter hypermethylation and intake of local hot salted tea and sun-dried foods are associated with gastric tumors.
22498935 Of the 29 cases with high microsatellite instability, 24 (83%) were positive for methylation of the MLH1 promoter region in this study of patients with endometrial cancer.
22456432 Report loss of expression of hMLH1, hMSH2 and hMSH6 in small intestinal carcinomas.
22453149 The mutations in the MLH1 and MSH2 genes in Latvian Lynch syndrome high-risk families are highly heterogeneous.
22426235 study concludes that MLH1 K618A is not a fully penetrant Lynch syndrome mutation, although it is not without effect, appearing to increase the risk of Lynch syndrome-associated tumors approximately twofold
22395473 The Q48P mutation in the hMLH1 gene is associated with Lynch syndrome and it is feasible that this particular aberration occurs more frequently among Hungarian Lynch syndrome patients.
22378480 hMLH1 is differently expressed in the three main subtypes of sporadic renal cell carcinoma.
22371642 Germline mutations of MLH1 and MSH2 were identified in four Malaysian Lynch syndrome patients.
22368298 review demonstrates that tumour BRAF V600E mutation, and MLH1 promoter 'C region' methylation specifically, are strong predictors of negative germline mismatch repair (MMR)mutation status
22331944 Mutations in MLH1 is associated with neoplasms.
22306672 Suppressed expression of hMLH1was significantly correlated with methylation of CGI-I but not CGI-II.
22287095 Loss of MLH1 expression is associated with downregulation of HLA class I which contributes to immune escape resulting in endometrial carcinomas.
22249249 Data indicate that ARMCX2, COL1A1, MDK, MEST and MLH1 genes acquired methylation in drug-resistant ovarian cancer-sustaining (side population) cells.
22246327 Report infrequent promoter methylation of MLH1 in head and neck squamous cell carcinoma.
22234160 the hMLH1 promoter showed a specific methylation pattern at two CpG sites in neural tube defects
22188959 The prevalence of the MLH1 mutated genes was similar between hyperplastic polyps and serrated adenomas
22169643 hMLH1 methylation may not be directly involved in the tumorigenesis of esophageal squamous cell carcinoma.
22156295 MLH1 hemizygous deletion, through increasing the rate of indel mutations, could drive the development and progression of sporadic cancers.
22145025 Down-regulation of MLH1 is associated with initiation and growth of neuroblastoma and brain tumour multicellular spheroids.
22144422 Methylated MLH1 promoter region is associated with colorectal cancer.
22136435 An ethnic-specific MLH1 mutation spectrum occurred in Chinese gastric cancer patients.
22086685 MSI-high was more frequent in young (</= 40 years) patients with colorectal adenoma than in older (>40 years) patients. Hypermethylation of the hMLH1 gene appears to be an important cause of MSI-high in these patients.
22083523 Decrease in expression during neoadjuvant chemotherapy were more frequently observed for MGMT as compared to MLH1, MSH2 or BRCA1.
22067334 The lack of immunostaining for any of the 4 DNA mismatch repair proteins in this extremely unusual case was, therefore, related to a germline MSH2 mutation and somatic MLH1 promoter hypermethylation
22022465 MLH1 promoter methylation may spread from Alu elements that are located in intron 1 of the MLH1 gene.
22006538 DNA methylation of each marker was quantified using combined bisulfite restriction analysis (COBRA) and analyzed along with various genetic factors associated with CRC [the BRAF and KRAS mutations, MLH1 methylation and microsatellite instability
21988782 Somatic mutations in the hMLH1 and hMSH2 genes play a vital role in colorectal cancer and a high prevalence was found in this meta-analysis.
21953887 Constitutional MLH1 epimutations are associated with a real risk of transgenerational inheritance of cancer susceptibility.
21952876 the eight MLH1 missense alterations detected in patients with Lynch syndrome appear to affect its function to varying degrees
21911971 ColorectalCancers with abnormal MMR gene expression like MLH1 were associated with microsatellite instability-high (MSI-H) phenotype.
21901500 Frameshift mutations in hMLH1 gene is associated with hereditary non-polyposis colorectal cancer.
21875327 There is no overall role for diet and lifestyle in MMR status in colorectal cancer, consistent with age-related susceptibility to MLH1 promoter methylation.
21849808 the inactivation of HMLH1 by methylation occurs by distinct pathways according to the histological subtype and tumor location and depends on the Helicobacter pylori genotype
21840485 report a cancer-affected family showing dominant transmission of soma-wide highly mosaic MLH1 methylation and transcriptional repression linked to a particular genetic haplotype
21785361 we have identified a novel MLH1 exonic rearrangement that is a common founder mutation in Lynch syndrome families
21766496 Promoter hypermethylation of MLH1 is associated with sporadic colorectal cancer.
21747645 Analyzed promoter methylation of three candidate genes (p16, MGMT, and hMLH1) in 403 liquid-based cytology samples.
21745804 These findings showed no persuasive evidence that MLH1 -93 G/A polymorphism was associated with an increased risk of cancer.
21744313 There was a loss of MLH1 expression in aberrant crypt foci in subjects with hereditary nonpolyposic colorectal cancer
21721000 Mutations in MLH1, MSH2 and MSH6 are associated with Lynch syndrome.
21712435 Oligo array analysis was performed to search for genomic imbalances in patients with suspected mutation-negative Lynch syndrome with MLH1 deficiency in their colorectal tumours.
21706233 that CpG island methylation in hMSH2 and MGMT, but not hMLH1, is closely related to carcinogenesis in colorectal carcinomas presenting with a conventional adenoma-carcinoma sequence
21681552 Study adds new information about MLH1 gene mutations and contribute to better characterize Lynch Syndrome. High rate of novel mutations demonstrates the importance of defining MLH1 mutations in distinct Lynch Syndrome populations.
21674174 Detection of the methylated sequences of hMLH1, hMSH2, and MGMT appears to be promising as a predictive factor in primary esophageal squamous cell carcinoma.
21671475 we describe a splice site mutation in MLH1 cause Lynch syndrome ; this mutation is relatively common in the U.S. the mutation occurred in an allele that already carried another more common founder sequence change in MLH1 (missense variant V716M)
21660619 MLH1 gene promoter methylation is associated with pancreatic cancer.
21642682 In Lynch syndrome, MSH6 mutations are associated with lower cancer risks than MLH1 or MSH2 mutations. Lifetime ovarian and endometrial cancer risks associated with MLH1 or MSH2 mutations were high but do not increase appreciably until after age 40
21622124 After adjusting for RPA class the only statistically significant result of the multivariable logistic regressions for these 7 DNA repair factors was that as hMLH1-MF1 increased, the odds of being a short-term survivor versus long-term survivor decreased
21615986 MSH2 and MLH1 mutations in Chinese hereditary non-polyposis colorectal cancer patients; 11 mutations found - 6 in MLH1, 5 in MSH2; 3 novel mutations in MLH1 (c.157_160delGAGG, c.2157dupT, c.-64G>T) found; 1 suspected hotspot MSH2(c.1168C>T) found
21565826 MLH1 polymorphism is associated with microsatellite instability in colorectal cancer.
21559014 Germline mutations in MLH1 gene is associated with colorectal cancer.
21556900 Epigenetic inactivation of hMLH1 was an early event in the malignant transformation of ovarian endometriosis.
21538028 Aberrant promoter methylation was investigated by methylation-specific real-time PCR for p16, p14, APC and hMLH1.
21513149 association of mismatch repair gene single nucleotide polymorphisms (SNPs) with susceptibility to sporadic colorectal cancer (SCRC)
21425258 reduced expression of MMR proteins, but not changes in MGMT promoter methylation, is characteristic of glioblastomas recurring after the current standards of care.
21404117 88 MLH1 missense variants identified in families from the German Lynch syndrome consortium with clinical details of these patients/families.
21375764 No significant relation was observed between aberrant DNA methylation of P16, MGMT and hMLH1 gene, as well as MTHFR C677T genetic polymorphisms and the prognosis of esophageal squamous cell carcinoma.
21375527 Monoallelic MLH1 epimutations were identified in two sporadic cases. These cases provide further evidence of the aetiological role for MLH1 epimutations in cancer development.
21358597 Alterations in the mismatch repair proteins MSH2 and MLH1 and the direct repair protein MGMT may result from tumor development and/or progression.
21353335 hMLH1 gene may be detected early in head and neck squamous carcinogenesis. Promoter hypermethylation is an important mechanism for hMLH1 gene inactivation in HNSCC.
21348638 A significant downregulation of hMLH1, hMSH2, and hPMS2 expression was observed in Pca compared to benign prostatic hyperplasia (BPH).
21290340 The PTEN and MLH1 immunohistochemical analysis broadens the microscopic diagnosis of the endometrial carcinomas.
21286667 MLH1 germline mutations are associated with colorectal carcinoma.
21233718 novel duplication of exons 12 and 13 of the MLH1 gene was detected in two independent families from Colombia as the causative LS mutation.
21213371 Variable levels of MLH1 promoter hypermethylation were detected in 55 patients
21206982 The -93G>A polymorphism modifies the efficiency of MLH1/EPM2AIP1 transcription.
21169277 MLH1 function may be context dependent: in 'low stress' conditions it may act to inhibit apoptosis, while in 'high stress' conditions it may induce apoptosis, within the context of chromosomal instability, the effect of MLH1 on cell numbers is limited.
21156845 The effect on OS of MLH1, a component of the DNA mismatch repair system, is consistent with its role in regulating the genotoxic effects of doxorubicin and platinum compounds
21155023 distribution of mutations in exon 1, 17 and 19 of MLH1 gene and in exon 2 of MSH2 gene showed significant differences between two racial groups
21136174 Variant E433Q was shown to have no effect on MLH1 protein function
21122410 There is a certain loss of expression of hMLH1 and hMSH2 proteins in sporadic colorectal carcinoma, and is correlated with the age of patients, lymphatic metastasis and different depth of cancer invasion.
21102416 Methylation of the 3p22 region encompassing MLH1 is representative of the CpG island methylator phenotype in colorectal cancer.
21093954 genetic polymorphism is associated with the risk of lung cancer among never smokers
21093899 Common genetic variation in PTEN, PIK3CA, AKT1, MLH1, or MSH2 was not statistically significantly associated with endometrial cancer.
21091774 The significant association between reduced expression of both hMSH2 and hMLH1 and poor histologic grades of the tumor claims that these proteins are involved in the process of cancer progression.
21075045 hMLH1 promoter methylation is an early event that is maintained during tumor progression.
21070872 Observational study of gene-disease association. (HuGE Navigator)
21056691 Observational study of gene-disease association. (HuGE Navigator)
21045259 42% (21/50) cancers and 15.4%(2/13) precancers exhibited microsatellite instability where 85.7% cancers and 50% precancers with MSI, showed a hypermethylated hMLH1 promoter.
21034533 Novel germline mutations in MLH1 and MSH2 in families with Lynch syndrome.
21029181 MLH1 expression was significantly associated with lymph node metastases and borderline with perineural invasion.
20978327 No correlation between the presence of EBV and hMLH1 promoter hypermethylation was found.
20978114 we uncover an MLH1 clinical mutation with a leucine (L)-to-histidine (H) amino acid change at position 607 in hereditary nonpolyposis colon cancer that ablates MLH1 binding to FANCJ
20967208 SNPs, in strong linkage disequilibrium with rs1800734, showed strong associations with MLH1 promoter methylation, loss of MLH1 protein, and MSI-H CRC in all three samples
20967208 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20937110 analysis of MLH1, MSH2 and MSH6 in Greek families with Lynch syndrome does not show a founder effect
20864418 the integrity of the MLH1 ATPase domain is more critical than the PMS2 ATPase domain for normal DNA mismatch repair functions
20860725 analysis of allelic expression in controls and mutation carriers not expected to exhibit NMD showed MLH1 expression is influenced by sequence variation acting in cis; identifed 2 SNPs, rs1799977 and rs1800734 independently associated with expression
20858721 Results confirm the pathogenicity, moderate penetrance, and founder origin of the MLH1 c.306+5G>A and c.1865T>A mutations. These findings have important implications for genetic counseling and molecular diagnosis of Lynch syndrome.
20831982 Study examines intratumoral heterogeneity of MSI and promoter methylation of hMLH1 after immunohistochemical screening for heterogeneous expression of hMLH1 in 55 cases of gastric carcinomas.
20815811 loss of hMLH1 expression through aberrant methylation could be used as a marker of poor prognosis in colorectal adenocarcinoma.
20811672 defects in the MLH1 and MSH2 genes are involved in renal carcinogenesis and correlate with the occurrence of microsatellite instability
20731661 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20717847 An intronic mutation in MLH1 is associated with familial colon and breast cancer.
20709753 Selenium compounds activate ATM-dependent DNA damage response via the mismatch repair protein hMLH1 in colorectal cancer cells.
20708344 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20663978 The anticolonic cancer effect of estrogen may be related to MLH1 regulation.
20644561 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20640520 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20591884 Observational study of gene-disease association. (HuGE Navigator)
20590835 Hypermethylation of the hMLH1 promoter increases with age and might contribute to the induction of 15-30% of all carcinomas of the stomach and large intestine in the elderly.
20533529 Three alterations (p.Gln542Leu, p.Leu749Pro, p.Tyr750X) caused decreased coexpression of PMS2, which is unstable in the absence of interaction with MLH1, suggesting that these alterations interfere with dimerization.
20533283 frequency of MLH1 hypermethylation is similar in sporadic and familial cases of gastric cancer, suggesting that in both settings microsatellite instability is not associated to MMR genetic alterations but in contrast to epigenetic deregulation
20531010 hMLH1 promoter methylation was observed in 20.8% of the patients who were also positive for JC virus T antigen.
20496165 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20495877 Mutations in MLH1 is associated with colorectal cancer.
20489114 Methylation analysis of MLH1 shows better performance characteristics than BRAF V600E mutation in the selection of patients for genetic testing of MLH1.
20489114 Observational study of genetic testing. (HuGE Navigator)
20473912 De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in sporadic Lynch syndrome.
20470425 Decreased transcription-coupled nucleotide excision repair capacity is associated with increased p53- and MLH1-independent apoptosis in response to cisplatin.
20458443 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20453000 Observational study of gene-disease association. (HuGE Navigator)
20450746 The 1151TA + AA genotype of MLH1 is a risk factor for papillary thyroid carcinoma.
20450746 Observational study of gene-disease association. (HuGE Navigator)
20444249 Investigate the etiology of MLH1 promoter methylation in mismatch repair mutation-negative early onset MSI-H colon cancer.
20444249 Observational study of gene-disease association. (HuGE Navigator)
20437058 Observational study of genetic testing. (HuGE Navigator)
20412120 dysregulation of hMLH1, ITGA9, and RBSP3 associated multiple cellular pathways are needed for the development of early dysplastic lesions of the head and neck.
20403997 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20373145 Nine Lynch syndrome cases showed novel germ-line alterations: two frame-shifts (MLH1 c.1843dupC and MLH1 c.1743delG) and three missense mutations (MLH1 c.293G>C, MLH1 c.954_955delinsTA and MSH2 c.2210G>A
20368715 Observational study of gene-disease association. (HuGE Navigator)
20338046 We investigated methylation patterns in the promoter regions of ABCB1, ATM, BRCA1, CDH3, CDKN2A, CXCR4, ESR1, FBXW7, FOXC1, GSTP1, IGF2, HMLH1, PPP2R2B, and PTEN75 in well-described pre-treatment samples from locally advanced breast cancer
20336543 The hMLH1 gene A655G polymorphism may play a role in the pathogenesis of colorectal cancer.
20336543 Observational study of gene-disease association. (HuGE Navigator)
20332274 These findings suggest that higher calcium and vitamin D intakes may result in increased MSH2 and MLH1 activity in the normal colorectal mucosa of sporadic adenoma patients
20305446 21 Chilean families with Lynch syndrome showed 6 mutations in MLH1.
20227930 there were differences in clinicopathologic features and expression of the mismatch repair protein MLH1(mutL homolog) in Microsatellite unstable Colorectal Cancer (CRC) according to tumour location; proximal CRC had a frequent lost of MLH1 expression.
20223108 In recurrent glioblastoma tumors MLH1 expression is significantly reduced and is also associated with the Ki67 proliferation index.
20210238 Observational study of gene-disease association. (HuGE Navigator)
20206180 Observational study of gene-disease association. (HuGE Navigator)
20177793 Data suggest that families in China carrying the T1151A polymorphism of MLH1 may have a higher risk of suffering from gastric cancer.
20177793 Observational study of gene-disease association. (HuGE Navigator)
20167975 study suggested that R659X substitution in MLH1 gene was prime cause for the disease phenotype in this family
20149637 Observational study of gene-disease association. (HuGE Navigator)
20090515 unbalanced intracellular distribution between nucleus and cytoplasm in gastric adenocarcinomas and gastrointestinal stromal tumors
20072951 hMLH1 and hMSH2 proteins may be involved in ovarian carcinogenesis.
20063070 one of the five patients with Lynch Syndrome had loss of expression of one allele and deletion of the other allele in the tumour. A novel intronic splice mutation was subsequently identified
20060799 -93 SNP affects the MLH1 gene expression
20056646 possible association with a gene variant in MLH1 in relation to the risk of overall prostate cancer, more aggressive disease, and prostate cancer recurrence
20056646 Observational study of gene-disease association. (HuGE Navigator)
20028567 Observational study of gene-disease association. (HuGE Navigator)
20020535 analysis of variants of the MLH1 MMR protein in a cell-free system
20004149 hMSH2, hMLH1 and PCNA localize to the chromatin during S-phase, and accumulate to a greater extent in cells treated with a DNA alkylating agent.
19995443 Three synchronous primary carcinomas in a patient with hereditary nonpolyposis colorectal cancer is associated with a novel germline mutation in MLH1.
19956916 This is the first case-control study to show a significant association between the hMLH1-93G-->A polymorphism and the susceptibility to and prognosis of lung cancer.
19956916 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19936946 these exploratory data provide suggestive evidence for the association of MTHFR 429 Ala/ Ala and TCN2 259 Arg/Arg and CIMP status in colorectal cancer
19930554 loss of heterozygosity at part of the informative loci confined to the MLH1 or MSH2 gene (heterozygous LGR region, SNP, or microsatellite) is a novel finding
19900449 Observational study of gene-disease association. (HuGE Navigator)
19898223 Young women with endometrioid carcinomas who show loss of mismatch proteins are at risk for high-grade tumors with worse clinical outcomes.
19894224 methylation of hMLH1 and hMSH3 is age related and thus may play an important role in gastric carcinogenesis in the elderly.
19893772 Lynch syndrome was confirmed or highly suspected in patients (eight of 56) by the identification of a deleterious mutation or variant likely to be deleterious in hMLH1 mismatch repair gene.
19888426 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19876921 Observational study of gene-disease association. (HuGE Navigator)
19863800 A92P, S93G, I219V, K618R and K618T variants of MLH1 were classified as non-pathogenic, whereas variants T117M, Y646C and R659Q were characterized as pathogenic.
19861671 MLH1 and MSH2 mutation carriers had a similar increase in risk of developing pancreatic cancer compared with the general population.
19861671 Observational study of gene-disease association. (HuGE Navigator)
19861440 MLH1 status significantly affects cellular responses to prolonged low dose ionizing radiation
19858398 Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19856662 Biallelic inactivation of the hMLH1 gene by LOH combined with promoter hypermethylation is likely to cause inactivation of hMLH1 protein and to play an important role in the development of NSCLC in the Chinese population.
19855373 analysis of MLH1 methylation does not support earlier reports of MLH1 methylation in proximal hyperplastic colonic polyps
19786217 Promoter hypermethylation of the hMLH1 gene may be associated with increased MSI and poor survival in HNSCC.
19767099 alternative splicing of hMLH1 is highly variable in normal and leukaemic cells
19760518 Ten different pathological mutations were found in 54 non-related cases of Lynch syndrome, two of which had not previously been reported--one in MLH1 and the other in MSH2
19741564 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19734583 The expression loss rate of MLH1 and MSH2 in the hereditary nonpolyposis colorectal cancer group was higher than that in the control group.
19730683 Observational study of gene-disease association. (HuGE Navigator)
19728162 Four Lynch syndrome patients were found to carry a total of five MLH1 or MSH2 variants.
19723918 Observational study of gene-disease association. (HuGE Navigator)
19720893 Observational study of gene-disease association. (HuGE Navigator)
19714462 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19707776 The aim of the present study was to determine the profile of mismatch repair (MMR) defects in Iranian colorectal cancer patients by using immunohistochemical staining for MLH1, MSH2, PMS2, and MSH6.
19703417 Co-immunoprecipitation analyses revealed that MutLalpha, and also MSH2 and MSH6, components of the MutSalpha heterodimer, form complexes with Poleta in human cells.
19697618 association of the two genes hMLH1 and CDKN2A/p16 may allow a differential diagnosis between endometrial lesions.
19697156 we functionally characterized 10 rare missense mutations in MLH1 and MSH2 identified in 13 Danish colorectal cancer families
19692168 Observational study of gene-disease association. (HuGE Navigator)
19688281 Observational study of gene-disease association. (HuGE Navigator)
19685281 the mutation of c.1731+5G>A in MLH1 led to exon15 skipping, and that the mutation of c.211+1G>C in MSH2 created an activated cryptic splice-site 17-nucleotides upstream in exon1 in patients with Lynch syndrome
19672700 loss of PMS2 in MLH1 truncating mutation carriers that express MLH1 in their tumors has not been previously reported
19669161 Studies indicate that none of the nine experimentally tested missense mutations in the MLH1 and MSH2 genes actually influenced splicing.
19665066 MLH1 655A-->G change is associated with an increased risk, although it seems to have a favorable effect on patients, providing a better outcome
19665066 Observational study of gene-disease association. (HuGE Navigator)
19661089 Observational study of gene-disease association. (HuGE Navigator)
19644562 BRCA1 methylation correlated with age at diagnosis (P = .015) and 5-years disease free survival (P = .016) while hMLH1 methylation was more frequent in larger tumors (P = .002) and in presence of distant metastasis (P = .004).
19639184 the present study reveals a possible function of MLH1 protein in protecting colon tumor cells from resistance acquisition by trichostatin A
19635727 Women in this study had ovarian cancer, with either MLH1, MSH2 or MSH6 mutation. 30 year survival for ovarian cancer was 71.5%, and for all hereditary non-polyposis colon cancer (HNPCC)/Lynch syndrome related cancers inc. ovarian cancer it was 47.3%.
19635727 Observational study of gene-disease association. (HuGE Navigator)
19625176 Observational study of gene-disease association. (HuGE Navigator)
19622357 Observational study of gene-disease association. (HuGE Navigator)
19621725 microsatellite instability was associated with hMLH1 in gastric carcinomas
19621678 microsatellite instability in BAT26 and BAT25 were predictive of MSH1 mutated Lynch syndrome
19621678 Observational study of gene-disease association. (HuGE Navigator)
19617759 the promoter hypermethylation for methylguanine DNA methyltransferase, human Mut L homolog-1, and vimentin in stool samples is a feasible epigenetic marker that is a sensitive, specific, and noninvasive alternative for colorectal cancer screening.
19578765 the expression of hMLH1 variant types 1 and 3 did not completely follow the same transcription mechanism.
19567531 Assessing high rate microsatellite instability and expressions of MLH1 could be used to distinguish benign and malignant insulinomas and to predict the outcome of patients.
19536092 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19526325 Among patients with Lynch syndrome, germline defects were found in in MLH1 in 2 patients, in MSH2 in 4 patients, in PMS2 in 1 patient, and none in MSH6.
19526325 Observational study of gene-disease association. (HuGE Navigator)
19515846 MutLalpha (MLH1-PMS2), replication protein A (RPA), and HMGB1 have roles in 5'-directed mismatch repair
19504447 Observational study of gene-disease association. (HuGE Navigator)
19494183 unexpected heterogeneous patterns of methylation at the MLH1 promoter within a subset of endometrial tumors.
19479271 Case report: Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancer.
19464205 There were no statistical differences in the immunoexpression of the studied marker concerning gender, age strata, evolution course, tumor size, and location of the adenoma; several lesions showed complete absence of staining.
19455606 Tested for MLH1 and/or MSH2 promoter hypermethylation and found germline MLH1 hypermethylation and EPCAM deletion in the genetically proven Lynch syndrome cases is 9.4 and 6.3%, respectively.
19424639 Report efficient molecular screening of Lynch syndrome by specific 3' promoter methylation of the MLH1 or BRAF mutation in colorectal cancer with high-frequency microsatellite instability.
19423536 Lower MLH1 expression in the normal colonic mucosa, in the ascending colon, may be associated with increased risk of incident, sporadic colorectal adenoma.
19423266 New hMLH1 missense mutation in Muir-Torre syndrome associated with familiar transmission of different gastrointestinal adenocarcinomas.
19419416 38 pathogenic mutations (10 large deletions and 28 point mutations or small deletion/insertions) in the MSH2 or MLH1 gene were identified in 61 of 93 Taiwanese Lynch syndrome families
19419416 Observational study of gene-disease association. (HuGE Navigator)
19383374 REVIEW: mutations in mismatch repair genes, the most common of which are MSH2 and MLH1, which predispose to Lynch syndrome
19371218 No significant differences were found between patients with ulcerative colitis and controls both for genotype and allele frequencies. Data show a significant association when colectomized and noncolectomized patients are compared.
19371218 Observational study of gene-disease association. (HuGE Navigator)
19364498 This is the first report that demonstrates a protective effect for the race-related MLH1 polymorphism at codon 384 against prostate cancer and these results are important in understanding their role in this disease.
19364498 Observational study of gene-disease association. (HuGE Navigator)
19360343 The loss of C-terminus of hMLH1 protein was thus considered to possibly play a role in the development of HNPCC with other tumors.
19351817 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19337631 Observational study of gene-disease association. (HuGE Navigator)
19291797 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19267393 Six programs were used to predict the effect of 13 MLH1 and 6 MSH2 gene variants on pre-mRNA splicing.
19259094 Treatment of A2780/cp70 with decitabine and belinostat results in a marked increase in expression of epigenetically silenced MLH1 and MAGE-A1 both in vitro and in vivo when compared with decitabine alone.
19248199 Characteristics of mismatch repair gene mutation of Chinese hereditary non-polyposis colorectal cancer by MLH1 gene promoter methylation.
19246465 infertile men displayed an altered MLH1 distribution on at least one of the chromosome arms studied
19244167 Observational study of genetic testing. (HuGE Navigator)
19237606 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19215248 Observational study of gene-disease association. (HuGE Navigator)
19207881 Promoter hypermethylation was observed in 14/28 oral squamous cell carcinoma cases. Remarkably, 100% of patients with multiple oral malignancies showed hypermethylation in hMLH1.
19175039 The immunohistochemical expression of hMLH1 and hMSH2 proteins in ovarian cancer has no predictive value in resistance to cisplatin.
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19165197 Deficient mismatch repair system caused by hypermethylation of the MLH1 promoter is associated with sporadic advanced colorectal cancer
19164452 MLH1-hypermethylated tumors harbor fewer APC and KRAS mutations and more BRAF mutations, suggesting that they develop distinctly from an MGMT methylator pathway.
19143775 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19142183 The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome
19132747 Observational study of gene-disease association. (HuGE Navigator)
19127559 Extensive promoter methylation was associated with MLH1 inactivation, microsatellite instability, and BRAF mutation in sporadic colorectal cancers.
19115210 Observational study of gene-disease association. (HuGE Navigator)
19109866 MLH1 promoter methylation analysis is a promising tool for molecular genetics screening for hereditary nonpolyposis colorectal cancer.
19100506 Three novel hereditary nonpolyposis colorectal cancer mutations are reported in Korean families. MLH1 has a frameshift mutation and a premature stop codon.
19079988 5-Aza-dC alone or in combination with trichostatin A results in DNA demethylation of the hMLH1 gene, restoration of hMLH1 expression and reversal of DDP-resistance of COC1/DDP cells.
19075283 Observational study of gene-disease association. (HuGE Navigator)
19064572 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
19062740 hMLH1 mutations in Chinese HNPCC families show a wide spectrum.
19062740 Observational study of gene-disease association. (HuGE Navigator)
19060925 colorectal mucosa exhibits sex- and segment-specific susceptibility to DNA methylation at the hMLH1 and MGMT promoters
19052983 interactions between DNA repair genes hMLH1, APEX1, MGMT, XRCC1 and XPD and electric transformers and power line distances from the houses of childhood acute leukemia patients revealed gene-environment interaction existed with XRCC1 Ex9+16 A allele
19052983 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19034977 oncogenic bacterium H pylori may promote gastric carcinoma in part through effect on DNA MMR system (MLH1 and MSH2)
19032668 Our results indicate that promoter hypermethylation is an important mechanism for loss of hMLH1 and hMSH2 expression in human ovarian cancer and may be a potential prognostic factor in ovarian cancer.
19016758 Frequent alterations of MLH1 at chromosomal 3p22.3 region in early and late-onset breast cancer are reported with reference to clinical and prognostic significance.
19015241 The site S2 in Mlh1 mediates Exo1 recruitment in order to optimize mismatch repair-dependent mutation avoidance.
18992917 Calretinin, MLH-1, and CDX2 may help to differentiate medullary carcinoma from poorly differentiated colonic carcinoma of the colon.
18990764 MLH1 methylation was observed in 60% of population-based MSI-H tumors and 13% of clinic-based colorectal tumors.
18990028 Observational study of gene-disease association. (HuGE Navigator)
18972272 Observational study of gene-disease association. (HuGE Navigator)
18949393 microsatellite instability Colorectal cancer patients with low Bcl-2 and hMLH1 and hMSH2 demonstrate a significantly shorter disease-free survival.
18941461 hMLH1-deficient cell lines due to either epigenetic silencing or mutation showed very similar IC(50) and were four- to nine-fold more sensitive to CPT-11 than the MSS line
18931482 Observational study of gene-disease association. (HuGE Navigator)
18851982 Observational study of gene-disease association. (HuGE Navigator)
18841495 Observational study of gene-disease association. (HuGE Navigator)
18830263 Observational study of gene-disease association. (HuGE Navigator)
18787700 MLH1-deficient human cells are more resistant to psoralen ICLs (DNA interstrand crosslinks ), in contrast to the sensitivity to these lesions displayed by MSH2-deficient cells
18772310 SNP-based method for detecting LOH in MLH1 and MSH2 is simple to perform with instruments available in most clinical genetics laboratories
18759827 Observational study of genetic testing. (HuGE Navigator)
18726168 Observational study of gene-disease association. (HuGE Navigator)
18723338 Observational study of gene-disease association. (HuGE Navigator)
18718023 expression status of mismatched repair genes hMLH1, the incidence of microsatellite instability high colorectal cancer in populations based study.
18713544 Eight hMSH2 or hMLH1 gene sequence variations were found in 12 Chinese families with hereditary nonpolyposis colorectal cancer (HNPCC).
18713157 Observational study of gene-disease association. (HuGE Navigator)
18712731 findings suggest that the MLH1 -93G>A polymorphism defines a low penetrance risk allele for colorectal cancer
18712731 Observational study of gene-disease association. (HuGE Navigator)
18708397 In this large study of mismatch repair gene mutation carriers in the United States, MLH1 carriers had more colorectal neoplasms than MSH2 carriers, endometrial cancer prevalence was similar.
18708397 Observational study of gene-disease association. (HuGE Navigator)
18701435 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18692554 All of the KRAS-mutant Microsatellite instability (MSI)-H (high) tumors harbored sequence alterations MLH1, which implies that KRAS mutation more frequently and almost exclusively occurs in DNA mismatch repair gene-mutant MSI-H tumors.
18683754 By down-regulating ERCC1, BRCA1, hMLH1 genes, blocking G0/G1 phase, and increasing apoptosis rate, mifepristone could enhance anti-tumor effect of cisplatin.
18683134 Observational study of gene-disease association. (HuGE Navigator)
18676680 Observational study of gene-disease association. (HuGE Navigator)
18646042 significant correlation was observed among the scores for the proteins. CONCLUSIONS: The expressions of hMLH1 and hMSH2 are independently regulated and play different roles in NSCLC.
18641418 Observational study of gene-disease association. (HuGE Navigator)
18627000 No significant effects of MLH1 -93A/G polymorphisms was seen on the initial repair of MMS-induced DNA damage in human lymphocytes.
18627000 Observational study of gene-disease association. (HuGE Navigator)
18624996 An analysis of MMR genes may be useful for patients with endometrial cancer showing familial aggregation
18623088 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18618713 MLH1 hypermethylation is reduntanly associated with colorectal cancers of Lynch-syndrome patients.
18615680 The MLH1 -93 G>A promoter polymorphism was associated with CpG island methylator phenotype in colon cancer.
18615680 Observational study of gene-disease association. (HuGE Navigator)
18594839 two novel nonsense mutations in MLH1 were found among 20 Brazilian hereditary non-polyposis colorectal cancer kindreds
18594535 Microsatellite instability and loss of MLH1 expression was rare, suggesting that MLH1 promoter methylation does not usually lead to gene silencing in lung cancer.
18581137 In the normal tissues of hereditary non-polyposis colorectal cancer patients with MSH2 mutations, the MLH1/MSH2 transcript ratios were significantly elevated as compared to the ratios of normal mucosa in patients with MMR-proficient tumours.
18566915 there was large impact from recurrent mutations in MLH1 and MSH2 in Lynch syndrome
18561205 A total of 22 unclassified variants in the mismatch repair genes MLH1 and MSH2 involved in hereditary nonpolyposis colorectal cancer out of 85different variant alleles examined in 82 families affected splicing.
18559504 MLH1 promoter methylation is associated with colorectal and endometrial carcinomas
18554281 Observational study of gene-disease association. (HuGE Navigator)
18547406 High linkage disequilibrium in the genomic regions covering hMLH1, indicate that common genetic variants in general are not involved in the development of sporadic colorectal cancer
18547406 Observational study of gene-disease association. (HuGE Navigator)
18543228 The total mutation rate of hMLH1 and hMSH2 gene in Chinese and Korean hereditary nonpolyposis colorectal cancer was similar and lower than that reported in Western countries. But the mutation characteristics were different in the two populations.
18523027 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18497967 These data suggest that the hMLH1 mRNA quantitation in colorectal cancer cells may be helpful for evaluating the prognosis of CRC patients receiving 5-FU-based adjuvant chemotherapy after a surgical resection.
18481196 Observational study of gene-disease association. (HuGE Navigator)
18480060 MMR-dependent intrinsic apoptosis is p53-independent, but stimulated by hMLH1/c-Abl/p73alpha/GADD45alpha retrograde signaling
18470905 aberrant methylation of the hMLH1 gene may play a role in BRAF mutation-promoted thyroid tumorigenesis
18405947 The G>A nt-93 variant of the MLH1 gene is associated with an increased risk of invasive ovarian cancer.
18405947 Observational study of gene-disease association. (HuGE Navigator)
18393252 The novel mutations c.243_244insA in MLH1 gene and c.1215_1218dupCCGA in MSH2 gene were the disease-causing mutations in the two HNPCC families.
18373977 Analysis of 38 hMLH1 missense mutations showed that the majority of mutations caused significant (>50%) reductions in their interaction with hMRE11.
18364438 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18345027 MLH1 is transcriptionally repressed by the hypoxia-inducible transcription factors, DEC1 and DEC2.
18339680 Folate intake and tumors harboring BRAF mutations and between vitamin B6 intake and those showing MLH1 hypermethylation were associated with colorectal cancer
18331286 The histological grade of malignancy interferes in hMLH1 immunoexpression; however, hMLH1 overexpression was correlated and associated with well-differentiated oral squamous cell carcinoma.
18325052 loss of function of hMLH1 and hMSH2 is not involved in sporadic RCC, either by promoter methylation or mutation in their exons. LOH showed that chromosomal instability of large fragments of DNA was the main genetic alteration detected associated with RCC.
18325052 Observational study of gene-disease association. (HuGE Navigator)
18301449 These findings provide strong evidence that MLH1 promoter methylation in normal body cells mimics Colorectal Neoplasms, Hereditary Nonpolyposis and constitutes a pathogenic pre-lesion in MLH1.
18299982 The left-sided preponderance of DNA mismatch repair defective colorectal carcinomas was mostly associated with hMLH1, and with possible loss of hMSH2 expression.
18289827 In about 90-95% of the cases, germline mutations of the hMLH1 or hMSH2 genes can be demonstrated, while only a low percentage is caused by the mutations of hMSH6, hPMS1 and hPMS2.
18270339 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
18265677 Expression of MLH1 protein was significantly lower in patients with gastric cancer showing a high frequency of microsatellite instability.
18257912 Observational study of genotype prevalence. (HuGE Navigator)
18206974 Adenine nucleotides induce large asymmetric conformational changes in full-length human MutL alpha. These changes are associated with significant increases in secondary structure.
18205192 These results demonstrate that the MLH1 variants significantly decrease the stability of the protein, while another missense variant is able to compromise heterodimerization of the MLH1-PMS2 complex.
18202787 These results support the evidence that hMSH2 and hMLH1 expression may increase prior to gastric cancer.
18200512 The MLH1 I219V alteration does not directly contribute to the etiology of UC through an impairment of mismatch repair.
18200512 Observational study of gene-disease association. (HuGE Navigator)
18199718 Observational study of gene-disease association. (HuGE Navigator)
18193434 In an epigenetic aspect, both MACS and MSI+ had a high rate of CpG island methylator phenotype (46.2 and 42.9%). However, they differed in the presence of hMLH1 methylation (7.7 vs 57.1%, p < 0.05).
18177869 Examined association between MTHFR/thymidylate synthase gene polymorphisms and methylation of p16(INK4A) and hMLH1 genes in spontaneously aborted embryos with normal chromosomal integrity.
18161865 Poorly differentiated colorectal adenocarcinomas strongly correlates with miscrosatellite instability and methylation of the p16 and hMLH1 promoter region.
18097574 aberrant Fhit and Mlh1 expression could be related to colorectal carcinoma de novo (DN) carcinogenesis.
18094436 This work availably evaluated the functional consequences of some missense mutations not previously determined in the hMLH1 gene and might be useful for the clinical diagnosis of hereditary gastrointestinal cancer, especially in East Asians
18069769 The two novel germline mutations of MLH1 in hereditary non-polyposis colorectal cancer families i.e. CGC right arrow TGC at codon 217 of exon 8 and CCG right arrow CTG at codon 581 of exon 16, are very likely to have pathological significance.
18061181 Observational study of genetic testing. (HuGE Navigator)
18056700 a mutation in the MLH1 3'-untranslated region confers a mutator phenotype and mismatch repair deficiency in patients with relapsed leukemia
18053639 Low expression of hMLH1 in esophageal squamous cell carcinomas is a potential marker of tumor response to chemoradiotherapy and survival.
18049911 Association between mutation in the hMLH1 gene and the risk of extracolonic neoplasms.
18033691 Observational study of gene-disease association. (HuGE Navigator)
18005136 Mutant L Homologue 1 (MLH1) is a possible new immunohistochemical marker for prostatic cancer.
17996647 silencing of the three transcription start sites in the bidirectional MLH1 promoter CpG island in cancer cells involves distinct changes in nucleosomal occupancy
17987798 lack of association between MLH1 protein expression and Microsatellite instability in endometrial cancer samples was observed
17973250 results show methylation of MLH1 promoter doesn't exclude presence of germline mutation in mismatch repair gene; hypermethylation of MLH1 promoter may be present in most cases of sporadic colorectal cancer but does not exclude diagnosis of Lynch syndrome
17967441 Our results show that hMLH1 interacts with Tbeta4 and regulates its expression and nuclear transport.
17959715 a common substitution in the basal promoter of MLH1 (position -93, rs1800734) modifies the risk of cancer after methylating chemotherapy
17959715 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
17939062 Observational study of gene-disease association. (HuGE Navigator)
17917741 Our rare cases support that MSI caused by MLH1 promoter methylation and the loss of hMLH1 protein play an important role in stage IV EGC development.
17914563 Decreased expression of hMLH1 correlates with reduced 5-fluorouracil-mediated apoptosis in colon cancer cells
17870204 hMLH1 rs1799977 polymorphism may contribute to the etiology of early-onset lung cancer as well as some specific subtype of lung cancer.
17870204 Observational study of gene-disease association. (HuGE Navigator)
17786961 Left-sided microsatellite unstable colorectal cancers show significantly less frequent methylation of hMLH1.
17785078 Observational study of genotype prevalence. (HuGE Navigator)
17711772 an abnormal mismatch repair (one component of mismatch repair is MLH1 protein) may contribute to the carcinogenesis of a subset of laryngeal squamous cell carcinoma
17690979 identified a C to G nucleotide substitution at position -107 relative to the MLH1 gene translation initiation site in three of 163 colorectal cancer patients with an allele frequency of 0.0092 (3/326)
17671701 Expression may be reduced in some early gastric carcinomas.
17653898 The researchers found three germline mutations associated with the clinical phenotype of Lynch syndrome
17652529 No loss of nuclear expression of either hMLH1 or hMSH2 was identified in any cases of intraductal or invasive ductal carcinoma, suggesting that hMLH1 or hMSH2 may not play an essential role in the majority of cases of the breast carcinoma.
17591929 A panel of markers including at least RUNX3, CACNA1G, IGF2, and MLH1 can serve as a sensitive and specific marker panel for CIMP(Cpg island methylator phenotype)-high.
17584637 Data show that the frequency of MSI and absence rate of hMLH1/hMSH2 expression are 56.16% and 49.32% in colorectal cancer patients.
17581638 predicts a broader role for FANCJ in DNA damage signaling independent of BRCA1
17573746 MLH1 hypermethylation was found in 16% of colonic polyps in young patients. It is an epigenetic change that may result in an accelerated progression to carcinoma.
17569143 Eighteen germline mutations (50%) were identified, 9 in MLH1 and 9 in MSH2, in Hungarian hereditary non-polyposis colorectal cancer (HNPCC) and suspected-HNPCC families.
17546041 Previous studies may have wrongly estimated association between methylation of the MLH1 gene and the lack of its protein expression in colorectal cancers.
17545526 quantitative MLH1 methylation analysis in MSI-H CRC is a valuable molecular tool to distinguish between HNPCC and sporadic MSI-H CRC
17510385 The 101 MLH1 variants were examined for the dominant mutator effect by three yeast assays and for the ability of the variant to repair a heteroduplex DNA with mismatch bases by in vitro MMR assay.
17509026 While CDH1 methylation seems to be an early event in Hp gastritis, MLH1 methylation occurs late along with IM.
17505997 Observational study of gene-disease association. (HuGE Navigator)
17505997 in hereditary non-polyposis colorectal cancer families, a proclivity to multiple tumours in the same subject & higher tumour burden per family were most relevant findings in affected patients with founder mutation compared to other MLH1 or MSH2 mutations
17498565 genomic rearrangements of MLH1 and MSH6 in patients suspected of hereditary nonpolyposis colorectal cancer were studied using a new interphase FISH technique
17493242 Expression of hMSH2 and hMLH1 proteins was up-regulated in three cases, whereas in two cases that of hPMS2 was increased. hMSH6 expression was comparable to that of normal cells in all cases.
17473388 Observational study of genetic testing. (HuGE Navigator)
17465465 Silencing the MLH1 gene expression by its promoter methylation stops the formation of MLH1 protein and activation of the DNA repair gene. This is a cause for genomic instability and cell proliferation to the point of colorectal cancer formation.
17454882 Two to six percent of CRC are caused by germline mutation in the mismatch repair genes MLH1, MSH2 and MSH6.
17426439 MLH1 is required for signaling to the autophagic pathway after exposure to thioguanine.
17417778 Observational study of gene-disease association. (HuGE Navigator)
17374836 Observational study of gene-disease association. (HuGE Navigator)
17374836 The MLH1 -93G>A polymorphism was associated with an increased risk of MSI-H colorectal cancer.
17348456 Observational study of genotype prevalence. (HuGE Navigator)
17316416 Microsatellite instability with absent hMLH1 expression plays a role in the development of poorly differentiated adenocarcinoma and microsatellite-unstable mucinous carcinoma in the elderly.
17312306 Observational study of genetic testing. (HuGE Navigator)
17276933 Decrease of expression of hMLH1 was significantly correlated with methylation.
17275176 Hypoxia induced coordinated repression of MLH1 and MSH2 leads to genetic instability and consequent tumor progression in cancer cells.
17260015 the patterns of somatic events (LOH and promoter methylation) differ depending on the tissue and germline mutation.
17230510 Epigenetic silencing of MLH1 is associated with endometrial and colorectal cancers
17228328 Although the frequency is much lower than that of genomic deletions, there are partial gene duplications implicated in hereditary nonpolyposis colorectal cancer.
17224235 Observational study of gene-disease association. (HuGE Navigator)
17219447 Inactivation of MLH1 gene is associated with head and neck squamous cell carcinoma tumors and leukoplakia
17208239 hMLH1 may have a role in development of secondary carcinoma in the gastrointestinal tract in patients (stomach and colorectal carcinoma)
17205513 Observational study of gene-disease association. (HuGE Navigator)
17203532 In three adenocarcinomas, microsatellite instability and lack of the MLH1 protein expression were detected.
17160686 Hyperplastic polyps in patients with MSI-H were more likely to have loss of hMLH1 protein expression, suggesting that they may be an implortant precursor lesion in MSI-H colorectal carcinogenesis.
17148452 In pstreplicative mismatch repair, this protein interacts wiwth MutL protein.
17135187 The identification of residues whose mutation disrupts MutL-MutS interaction and affects mismatch repair activity, suggesting a mechanism by which hereditary mutations in this region can produce a cancer predisposition.
17109103 Hyperplastic polyps in patients with MSI-H were more likely to have loss of hMLH1 protein expression, suggesting that they may be an implortant precursor lesion in MSI-H colorectal carcinogenesis.
17108146 Observational study of gene-disease association. (HuGE Navigator)
17095871 Observational study of genotype prevalence. (HuGE Navigator)
17074586 Observational study of gene-disease association. (HuGE Navigator)
17074586 MLH1 394G-->C occurred exclusively in sporadic colorectal cancer patients.
17011982 Observational study of gene-disease association. (HuGE Navigator)
16995940 Missense mutations in MLH1 are likely to affect splicing only when located in weak alternative exons. When they do so, they might modulate in a tissue-specific manner cancer onset and its phenotypic manifestations.
16985024 Observational study of gene-disease association. (HuGE Navigator)
16984616 These results indicate that an age-related increase of medullary-type tumors in poorly differentiated adenocarcinoma may play an important role in the increase of absent hMLH1 expression and Microsatellite instability (MSI) in colorectal carcinoma.
16984511 microsatellite instability and a loss of protein expression of DNA mismatch repair protein Mlh1 may be associated with the pathogenesis of sporadic endometrioid endometrial adenocarcinoma and might have a role as a prognostic parameter
16951227 The MLH1 RNA expression was correlated with microsatellite instability status and an inverse correlation was found between tumor MLH1 RNA expression and MLH1 DNA methylation.
16940983 Observational study of gene-disease association. (HuGE Navigator)
16929514 Observational study of gene-disease association. (HuGE Navigator)
16908935 Observational study of gene-disease association. (HuGE Navigator)
16902769 The inactivation of the DNA-mismatch-repair-gene MLH1 and microsatellite instability may play a minor role in somatic colorectal cancer development.
16885385 Observational study of genetic testing. (HuGE Navigator)
16874859 Smoking promoted colorectal cancer in a dose-dependent manner in hMSH2 in males (P < 0.05). Females with hMSH2 mutations and both sexes with the hMLH1 groups only demonstrated a smoking effect after an extensive smoking history (P < 0.05).
16810763 Germline mutations of hMLH1 and hMSH2 genes are identified in about one-third hereditary nonpolyposis colorectal cancer (HNPCC) kindreds fulfilling Chinese HNPCC criteria.
16807412 Observational study of gene-disease association. (HuGE Navigator)
16803849 Variation in MLH1 distribution in recombination maps for individual chromosome in human testis.
16786121 hMSH2 and hMLH1 may have a role in development of secondary carcinoma in the gastrointestinal tract in patients (stomach and colorectal carcinoma)
16774946 Observational study of gene-disease association. (HuGE Navigator)
16773692 Our study, probably for the first time, showed through immunohistochemical detection of hMSH2 and hMLH1 gene that DNA MMR system does not play a prominent role in liver fluke infection-associated cholangiocarcinogenesis.
16771955 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
16756717 HOXA5 is a transcriptional regulator of hMLH1 in breast cancer cells
16740762 Observational study of gene-disease association. (HuGE Navigator)
16724696 hMLH1 hypermethylation in tissue may be the primary event caused by endogenous/exogenous factors in esophageal diseases, aiding disease progression.
16724012 results indicate the P648S & L559R mutations from patients with suspected hereditary nonpolyposis colorectal cancer were pathogenic because they disrupted MLH1 protein interaction with its partner PMS2 in vitro & abolished MLH1 expression in HCT116 cells
16699861 The high agreement between AIP and MLH1 gene promoter methylation suggests that the inactivation of tumor suppressor genes and of the genes related to the control of cellular proliferation through this mechanism is involved in gallbladder carcinogenesis.
16696788 Observational study of genetic testing. (HuGE Navigator)
16684085 Study found that 40% of patients who were < or = 45 years of age at the time of diagnosis of colorectal cancer have tumors which are related to the absence of expression of either hMLH1 or hMSH2 genes.
16636019 Observational study of genotype prevalence. (HuGE Navigator)
16619216 Hypermethylation of hMLH1 is associated with primary adenocarcinomas of the small bowel
16569647 Microsatellite instability and modifications in the hMLH1 and hMSH2 genes are implicated in a significant proportion of the patients with head and neck cancer.
16541406 Alu is a promoting factor for the genomic recombinations in both MLH1 and MSH2, and the local Alu density may be involved in shaping the deletion pattern.
16531764 It is concluded that the rare foci of hypermethylation of the MLH1 promoter in normal colon epithelium from people with colorectal cancer is associated with silencing of the gene that may play a role in the early evolution of these neoplasms.
16474933 Observational study of gene-disease association. (HuGE Navigator)
16474933 MLH1 is associated with longevity.
16436636 We demonstrated an inverse relationship between hMLH1 promoter hypermethylation and MGMT promoter hypermethylation (P = 0.041), suggesting that a number of distinct hypermethylation-associated pathways may exist in colorectal cancer
16426918 results demonstrate that the loss of expression of MLH-1 and MSH-2 might play a role in the pathogenesis and/or malignant transformation in some renal carcinomas
16403449 biochemical analysis of the MutLalpha. MutSalpha complex
16395668 analysis of MLH1 and MSH2 missense and silent mutations effect on aberrant splicing
16357104 Identification of a splicing enhancer in exon 17 of MLH1.
16356174 APC and K-ras, but not CTNNB1 mutations have roles in regulation of expression of hMLH1 in sporadic colorectal carcinomas
16353134 Observational study of gene-disease association. (HuGE Navigator)
16341550 Results confirmed complete exon skipping for the mutations of MLH1 in hereditary nonpolyposis colorectal cancer patients.
16331552 Data show that no genomic DNA fragment aberration of MLH1 gene was uncovered from 20 sporadic colorectal cancer.
16329043 Weak to absent protein expression suggests RASSF1 and MLH1 post-transcription deregulation in monophasic synovial sarcoma.
16293975 The frequency of MSI (microsatellite instability) caused by hMLH1 promoter methylation increases with tumor progression in right-sided SCRCs.
16285940 Germline epimutations should be suspected in younger individuals without a family history who present with a microsatellite unstable tumor showing loss of MLH1 expression.
16237223 Observational study of genetic testing. (HuGE Navigator)
16234028 A germline mutation of MLH1 gene could be found in patients with hereditary nonpolyposis colorectal cancer syndrome.
16203774 Observational study of gene-disease association. (HuGE Navigator)
16172101 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
16143124 High frequency and diverse spectrum of large genomic alterations in hMLH1 in suspected Lynch syndrome patients.
16116158 Observational study of gene-disease association. (HuGE Navigator)
16106253 Observational study of gene-disease association. (HuGE Navigator)
16106253 This study investigates microsatellite instability in multiple primary colorectal cancers, and the relevance of MLH1, MSH2, and MSH6 gene expression in hereditary nonpolyposis colon cancer.
16086119 Microsatellite instability is linked to loss of hMLH1 expression in advanced gastric cancers
16061855 hMLH1 is the major altered mismatch repair gene involved in nonsmoking NSCLC tumorigenesis and promoter methylation is the predominant mechanism in hMLH1 and hMSH2 deregulation
16012876 No correlation between microsatellite instability and hMLH1, hMSH2 or P53 protein expression in basal cell carcinma was found.
16003840 Observational study of genotype prevalence. (HuGE Navigator)
15996210 We sequenced the MLH1/MSH2 coding and promoter core regions in patients with cancers suggestive of hereditary non-polyposis colorectal cancer, and correlated deleterious mutations with clinical and tumour features.
15991064 Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
15958648 Observational study of gene-disease association. (HuGE Navigator)
15952990 Observational study of genotype prevalence. (HuGE Navigator)
15944788 Data show that hypermethylation of the MLH1 gene is occasionally involved in the pathogenesis of hematological malignancies, but is not always associated with microsatellite instability.
15923275 The results of the splicing assay suggest that inclusion of exon 3 in the mRNA is exon splicing enhancer (ESE) dependent.
15918206 Observational study of gene-disease association. (HuGE Navigator)
15904475 decreased expression in gastric mucosa during Helicobacter pylori gastritis
15870899 There is increased expression of MLH1 in vulvar carcinoma neoplasms.
15862756 Observational study of gene-disease association. (HuGE Navigator)
15858146 Observational study of genetic testing. (HuGE Navigator)
15855819 Defective DNA MMR is uncommon in long-term survivors of pancreatic cancer and does not account for the survival benefit in those with sporadic pancreatic cancer.
15849733 Observational study of genotype prevalence. (HuGE Navigator)
15832775 positive staining was found in 33.3% and 53.3% for hMLH1 and hMSH2, respectively, in dysplastic nevi, and in 54.5% and 69.1%, respectively, in cutaneous melanoma
15831578 Meta-analysis of genetic testing. (HuGE Navigator)
15816455 Colorectal cancers not expressing hMLH1 or hMSH2 may have distinct features from those expressing these mismatch repair proteins. p53 expression appears to be implicated in a compensatory pathway with mismatch repair proteins.
15807307 Epithelial cells of CIN lesions showed a significant increase in the expression of both hMLH1 and hMSH2 proteins compared to non-neoplastic squamous epithelium.
15786548 Chinese hereditary nonpolyposis colorectal cancer showed relatively frequent germline mutation of mismatch repair (MMR) genes
15782118 BRAF mutations proved to be absent in tumors from hereditary nonpolyposis colorectal cancer syndrome (HNPCC) families with germline mutations in the MMR genes MLH1 and MSH2.
15774782 Observational study of healthcare-related. (HuGE Navigator)
15769334 Observational study of gene-disease association. (HuGE Navigator)
15754314 characterization of nuclear import
15749592 MLH1 promoter gene hypermethylation is associated in patients diagnosed with metachronouscolorectal neoplasms.
15735976 hMLH1/hMSH2 protein expression is constitutively higher in certain cell types of certain tissues, including the majority of tissues that are at increased risk of cancer in hereditary non-polyposis colon cancer (HNPCC)
15713769 Observational study of genetic testing. (HuGE Navigator)
15696491 Large genomic deletions which mainly present to MSH2 account for 20% of general pathological sequence changes of MSH2 and MLH1 genes in Chinese HNPCC patients.
15626886 Observational study of gene-disease association. (HuGE Navigator)
15613860 Observational study of genetic testing. (HuGE Navigator)
15596632 Observational study of gene-environment interaction. (HuGE Navigator)
15583832 The observed profiles of hMLH1 methylation and microsatellite instability in gastric cancer, colorectal cancer, and NSCLC were quite different from each other
15583422 Observational study of gene-disease association. (HuGE Navigator)
15571801 Two novel MLH1 germ-line mutations in hereditary nonpolyposis colorectal cancer have been identified.
15558497 at pachynema, when chromosomes are fully paired, we find significant heterogeneity in the localization of the MutL homologs, MLH1 and MLH3, among human oocyte populations
15520370 Observational study of gene-disease association. (HuGE Navigator)
15475387 Identification of MLH1 missense codons that impair DNA mismatch repair function.
15467433 Loss of MLH1 gene is associated with genetic instability in testicular germ cell tumor
15466831 hMLH1 gene, which was considered to be a pathogenic mutation. According to the Human Mutation Database and International Collaborative Group on HNPCC (ICG-HNPCC) Database, this is the first report of this type of deletion mutation in the hMLH1 gene.
15382050 Observational study of gene-disease association. (HuGE Navigator)
15375803 The caqrcinogenesis of hereditary form of colon cancer with mutations in hMLH1 and hMSH2 genes involved in DNA repair is reviewed.
15365996 In HPCC patients, 7 new mutations were found: c.1023delG (p.R341Xfs); c.1127_1128dupAT (p.K377Xfs); c.1310delC (p.P437Xfs); c.677+3A>C (r.589_677del); c.1990-2A>G; c.122A>G (p.D41G); & c.2155_2156insATGTGTTCCACA (p.I719delinsNVFHI).
15365995 9 new mutations (c.632_633insT, c.808_811delACTT, c.845C>G, c.1625A>C, c.1730+1delG, c.1907T>C, c.1918C>T, c.2104-2A>G and c.2170T>A)were found in Korean HNPCC families.
15342696 Observational study of genetic testing. (HuGE Navigator)
15340264 Observational study of gene-disease association. (HuGE Navigator)
15309712 hMLH1 gene mutations, especially of the first nine exons, have been found more common than hMSH2 gene mutations in Chinese patients.
15309527 Aberrant promoter methylation of DNA mismatch repair enzyme MLH1 is detectable in a small number of acute myeloid leukemia cases.
15300854 2 cases of exon skipping and 1 case of partial intron inclusion with activation of a cryptic intronic splice site were found in MLH1.
15241839 Observational study of gene-disease association. (HuGE Navigator)
15240532 hMLH1 methylation in plasma DNA has a role in progression of ovarian cancer after chemotherapy
15226443 Data show that DNA damage induces the accumulation of hPMS1, hPMS2, and hMLH1 through ataxia-telangiectasia-mutated (ATM)-mediated protein stabilization.
15216397 Low predictive value of hMLH1 microsatellite and immunohistochemical analysis in Taiwanese hereditary nonpolyposis colorectal cancer
15200905 hMLH1 gene mutations, especially those of the first nine exons, are common in Chinese hereditary nonpolyposis colorectal cancer.
15161053 The presence of mutations of MSH2 and MLH1 in melanoma brain metastases, which has not been found in primary melanomas, indicates the high genomic instability of melanoma brain metastases.
15159312 Observational study of gene-disease association and genetic testing. (HuGE Navigator)
15087450 Proteolysis of MLH1 by caspase-3 plays a functionally important role in the execution of DNA damage-induced apoptosis.
15083191 MLH1 plays an important role in laryngeal squamous cell carcinoma development and progression
15064764 Germline epimutation of MLH1 is associated with multiple cancers
15062061 All hereditary nonpolyposis colorectal cancer patients displayed microsatellite instability, with the half losing hMLH1 expression.
15043284 Observational study of gene-disease association. (HuGE Navigator)
14985405 founder mutation in hereditary non-polyposis colorectal cancer patients from northern Italy
14961575 Observational study of gene-disease association. (HuGE Navigator)
14961575 Mutations of the MLH1 is associated with double primary cancers of the colorectum and the endometrium
14871813 MSH3 abrogation may be a predictor of metastatic disease or even favor tumor cell spread in MLH1-deficient colorectal cancers.
14767526 MLH1 has a role in squamous cell carcinoma of larynx development
14760534 findings suggest that defective DNA mismatch repair, due to inactivation of DNA mismatch repair protein hMLH1 and hMSH2 protein, does not play a significant role in the pathogenesis of intraductal papillary-mucinous neoplasms of the pancreas
14726676 Promoter methylation and hMLH1 expression are significantly associated with the MSI-H phenotype in colorectal cancers. (REVIEW)
14716824 4/6 (66.67%) and 1/6 (16.67%) mutations of hMSH2 and hMLH1 were identified in typical HNPCC and atypical HNPCC, respectively.
14714570 hMLH1 and hMSH2 gene mutations are present in radial growth-phase cutaneous malignant melanoma cell lines
14688830 the most prominent mismatch repair inactivation mechanism in sporadic colorectal cancer patients is the hMLH1 promoter hypermethylation which may have a role in the carcinogenesis of sporadic colorectal cancer.
14645426 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
14635101 Observational study of gene-disease association. (HuGE Navigator)
14632210 Microsatellite instability may be a consequence of hMLH1 promoter hypermethylation in mycosis fungoides patients and may prevent transcription in a subset of patients.
14631366 Loss of hMLH1 and/or hMSH2 expression was found in nine of 15 microsatellite instability-high ovarian endometrioid carcinomas.
14625810 Observational study of genotype prevalence. (HuGE Navigator)
14574163 Observational study of gene-disease association. (HuGE Navigator)
14562278 Inactivation of hMLH1 of DNA mismatch repair genes has an important role to play in the mutagenesis of the tumor-suppressor genes in alveolar soft part sarcoma.
14555508 Reduced expression of MLH1 during CDDP-based chemotherapy is associated with advanced thoracic squamous cell carcinoma of the esophagus
14529665 Observational study of genetic testing. (HuGE Navigator)
14526391 colocalization of pathogenic missense mutations with exonic splicing enhancers sites strongly suggests that their pathogenic effects are splicing related
14510941 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
14508843 hMLH1 is one of the most commonly mutated MMR genes in endometrial carcinomas and colorectal carcinomas.
14506639 Some atypical polypoid adenomyoma of the uterus exhibit MLH-1 promoter hypermethylation with focal lack of MLH-1 immunostaining.
12957287 mutator phenotype dominates over the gradual accumulation of DNA hypermethylation in determining the genotypic features that govern the phenotypic peculiarities of colon cancer of the mutator pathway
12939400 findings suggest a novel mechanism of MLH1 in the induction p53 and apoptosis by inhibiting RNA polymerase II-dependent transcription on damaged DNA templates
12938096 One MLH1 deletion (exons 3-6) has been found in Lynch syndrome patients.
12930688 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
12920342 Observational study of gene-disease association. (HuGE Navigator)
12919137 A mutation in the hMLH1 promoter co-segregates with the HPNCC phenotype. The -42C > T mutation is within a putative Myb binding site. The mutated Myb binding sequence is less effective in binding nuclear proteins than the wild-type promoter sequence.
12817878 Ductal pancreatic carcinomas express hMLH1 protein irrespective of their differentiation
12808326 Although mutator pathway was implicated in younger-age-onset colorectal carcinogenesis, many tumors appeared to evolve from different genetic events other than hMSH2 and hMLH1 mutations frequently identified in nonpolyposis colorectal cancer
12805408 the hMLH1 promoter contains multiple redundant enhancer elements capable of independent promoter activation and may explain the association of this region with methylation silencing of hMLH1.
12799449 N-terminus of MLH1 confers interaction of MutLalpha and MutLbeta with MutSalpha.
12727890 role in methylation-induced G(2)/M arrest
12713560 Immunohistochemistry revealed decreased hMLH1 protein expression in 27% (8/30) of esophageal squamous cell carcinomas, hMLH1 promoter hypermethylation was not observed.
12712438 Our findings indicate that reduced expression of the MMR proteins may have an important contribution in the development of a subset of TCCs and suggest a potential role for MMR expression as prognostic indicators.
12700670 The degree, rather than region-specific methylation of CpG islands is critical for decreased MLH1 expression & the microsatellite instability phenotype. Hypermethylation of mismatch repair genes is the initial step in endometrial carcinogenesis.
12696065 This is the first report in which genetic defects leading to disruption of mismatch repair function in a human melanoma have been identified.
12684691 Data show that alterations in global DNA methylation may influence tumor progression but are not directly associated with the inactivation of the mismatch-repair proteins hMLH1 and hMSH2.
12684669 Mutations of this protein show microsatellite instability in human prostatic cancer
12679904 There is mutation and methylation of this gene in gastric carcinomas with microsatellite instability.
12660027 Novel germline mutation in MLH1, with a deletion resulting in a frameshift and a premature stop codon (codon 228) noted in one Uraguayan HNPCC family
12627520 loss of MLH1 and MSH2 expression seen in approximately equal frequency in small intestine neoplasms with microsatellite instability
12627505 loss of hMLH1 expression in colorectal cancer patients strongly associated with increasing age
12622604 Observational study of genetic testing. (HuGE Navigator)
12605036 Promoter hypermethylation represents a major mechanism of the hMLH1 gene inactivation in head and neck squamous cell carcinoma.
12592365 CpG methylation of MGMT and hMLH1 promoter in hepatocellular carcinoma associated with hepatitis viral infection.
12592341 Microsatellite instability and hypermethylation of the promoter of this protein are involved in Richter's transformation of chronic lymphocytic leukemia.
12529664 extensive methylation of hmlh1 is associated with the presence of a defective DNA mismatch repair pathway resulting in microsatellite instability in acute myeloid leukemia
12513688 We report that expression of wild-type hMLH1 protein causes 19-fold increase in mutation rates, which was due to the ability of hMLH1 to interact with E coli MutL and MutS
12508345 Observational study of gene-disease association. (HuGE Navigator)
12508345 Data show that hypermethylation of human MLH1 may play a role in the early stage of development of some gastric carcinomas.
12496484 Mutations in hMLH1 cause inactivation of the MMR gene in renal cell carcinoma.
12496483 Mutations in the hMLH1 gene cause inactivation of the MMR gene in renal cell carcinoma.
12494471 genomic deletions in both MSH2 and MLH1 genes play a considerable role in the pathogenesis of HNPCC and should be part of the routine HNPCC mutation detection protocols.
12469220 mutation analysis of K-ras and beta-catenin genes related to O-6-methylguanine-DNA methyltransferase and this protein status in human gallbladder carcinoma
12461746 Biallelic inactivation of the MLH1 gene is a common epigenetic event in colorectal carcinogenesis when the promoter region is fully methylated.
12419761 Meta-analysis and HuGE review of genotype prevalence, gene-disease association, gene-gene interaction, gene-environment interaction, genetic testing, and healthcare-related. (HuGE Navigator)
12402334 Different molecular mechanisms underlie MLH1 sequence deletions in patients with Hereditary Nonpolyposis Colorectal Neoplasms.
12384516 Hypermethylation of HPP1 is associated with hMLH1 hypermethylation in gastric adenocarcinomas.
12209584 Cellular effects of CPT-11 on colon carcinoma cells: dependence on p53 and hMLH1 status.
12203784 The type 1 methylation pattern affects MLH1 mRNA expression such that the majority of cases of high-frequency microsatellite instability in sporadic colorectal cancer exhibit type 1 methylation.
12177781 Loss of mismatch repair protein (mainly, Mlh1) expression was detected in 21 of the 52 (40.4%) colorectal carcinomas
12115503 Age of onset and tumor microsatellite instability (MSI) not associated with MLH1 promoter methylation may point to women with a genetic susceptibility to malignancies
12095971 Eight mutations and two polymorphisms detected in Brazilian families with suspected Hereditary Nonpolyposis Colorectal Cancer
12023887 upregulation by ascorbic acid
12014680 Frequent LOH at hMLH1, a highly variable SNP in hMSH3, and negligible coding instability occur in ovarian cancer.
12011151 Association of Crohn's disease and ulcerative colitis with haplotypes of the MLH1 gene
11999575 The expression of hMLH1 and hPMS1 was significantly low in some large B-cell lymphomas and in mantle cell lymphomas of the blastoid type and may be related to the natural history of these neoplasms.
11948175 Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha mismatch repair factor affect its ATPase activity, but not its ability to interact with hMutSalpha
11935297 methylation density of a specific region plays an important role in gene inactivation of hMLH1 in colonic and gastric cancer cell lines
11920650 Observational study of gene-disease association. (HuGE Navigator)
11910346 Observational study of genotype prevalence. (HuGE Navigator)
11897781 Contribution of human mlh1 and pms2 ATPase activities to DNA mismatch repair.
11895912 Observational study of gene-disease association. (HuGE Navigator)
11879922 Observational study of genetic testing. (HuGE Navigator)
11879922 Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography
11872960 Tumor-specific promoter hypermethylation of hMLH1 may be an early event in carcinogenesis of the stomach
11857745 Large deletions have been detected in MLH1 in hereditary nonpolyposis colorectal cancer (HNPCC).
11809883 hMutSalpha forms an ATP-dependent complex with hMutLalpha and hMutLbeta on DNA
11793469 PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms in HNPCC
11782355 Observational study of gene-disease association. (HuGE Navigator)
11782355 Mutational analysis of promoters of mismatch repair genes hMSH2 and hMLH1 in hereditary nonpolyposis colorectal cancer and early onset colorectal cancer patients: identification of three novel germ-line mutations in promoter of the hMSH2 gene.
11748856 Further characterization of the mutational spectrum of MLH1 gene in HNPCC families.
11726306 Observational study of gene-disease association. (HuGE Navigator)
11691925 binds Bloom syndrome protein; nuclear localization
11606497 Observational study of gene-disease association. (HuGE Navigator)
11600610 Observational study of gene-disease association. (HuGE Navigator)
11579115 Observational study of genotype prevalence. (HuGE Navigator)
11562928 Observational study of genetic testing. (HuGE Navigator)
11524701 mutational analysis in HNPCC
11474654 hereditary and somatic mutations in sporadic endometrial adenocarcinoma
11208710 Observational study of genetic testing. (HuGE Navigator)
11158177 Observational study of gene-disease association. (HuGE Navigator)
11104559 Observational study of genotype prevalence. (HuGE Navigator)

AA Sequence

MSFVAGVIRRLDETVVNRIAAGEVIQRPANAIKEMIENCLDAKSTSIQVIVKEGGLKLIQIQDNGTGIRK      1 - 70
EDLDIVCERFTTSKLQSFEDLASISTYGFRGEALASISHVAHVTITTKTADGKCAYRASYSDGKLKAPPK     71 - 140
PCAGNQGTQITVEDLFYNIATRRKALKNPSEEYGKILEVVGRYSVHNAGISFSVKKQGETVADVRTLPNA    141 - 210
STVDNIRSIFGNAVSRELIEIGCEDKTLAFKMNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVY    211 - 280
AAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEESILERVQQHIESKLLGSNSSRMYFTQTLLP    281 - 350
GLAGPSGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDIS    351 - 420
SGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEMVEDDSRKEM    421 - 490
TAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELF    491 - 560
YQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEI    561 - 630
DEEGNLIGLPLLIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQ    631 - 700
QSEVPGSIPNSWKWTVEHIVYKALRSHILPPKHFTEDGNILQLANLPDLYKVFERC                  701 - 756
//

Text Mined References (846)

PMID Year Title
27107012 2016 Pooled-matrix protein interaction screens using Barcode Fusion Genetics.
27013479 2016 Frequent mismatch-repair defects link prostate cancer to Lynch syndrome.
26823831 2015 Implication of Reprimo and hMLH1 gene methylation in early diagnosis of gastric carcinoma.
26810771 2016 Gene methylation profile of gastric cancerous tissue according to tumor site in the stomach.
26761715 2016 Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.
26728996 2016 Interdependence of DNA mismatch repair proteins MLH1 and MSH2 in apoptosis in human colorectal carcinoma cell lines.
26724419 2016 Polymorphisms in mismatch repair genes are associated with risk and microsatellite instability of gastric cancer, and interact with life exposures.
26544533 2016 Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.
26512054 2016 Clinicopathologic Risk Factor Distributions for MLH1 Promoter Region Methylation in CIMP-Positive Tumors.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26477961 2015 Genomics of Hereditary Colorectal Cancer: Lessons Learnt from 25 Years of the Singapore Polyposis Registry.
26392358 2015 Methylation biomarkers for pleomorphic lobular breast cancer - a short report.
26275295 2015 The hMLH1 -93G>A Polymorphism and Risk of Ovarian Cancer in the Chinese Population.
26249686 2015 Structure of the human MLH1 N-terminus: implications for predisposition to Lynch syndrome.
26224637 2015 Evidence that the DNA mismatch repair system removes 1-nucleotide Okazaki fragment flaps.
26191250 2015 DNA methylation of hMLH1 correlates with the clinical response to cisplatin after a surgical resection in Non-small cell lung cancer.
26185030 2016 Distinctive Genetic Profile With IDH1, TP53, and MLH1 Mutations in a Radiation-Induced Anaplastic Astrocytoma.
26149658 2015 Segregation of a novel MLH1 mutation in an Iranian Lynch syndrome family.
26121593 2015 Clinical Significance of MLH1 Methylation and CpG Island Methylator Phenotype as Prognostic Markers in Patients with Gastric Cancer.
26101330 2015 Lynch syndrome caused by MLH1 mutations is associated with an increased risk of breast cancer: a cohort study.
26097592 2015 Relationship between MLH-1, MSH-2, PMS-2,MSH-6 expression and clinicopathological features in colorectal cancer.
26096739 2015 Multivariate analysis as a method for evaluating the pathogenicity of novel genetic MLH1 variants in patients with colorectal cancer and microsatellite instability.
26053027 2015 Risk Factors Associated with Colorectal Cancer in a Subset of Patients with Mutations in MLH1 and MSH2 in Taiwan Fulfilling the Amsterdam II Criteria for Lynch Syndrome.
25986311 2015 Association between MutL homolog 1 polymorphisms and the risk of colorectal cancer: a meta-analysis.
25908759 2015 Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer.
25908636 2015 Expression and promoter methylation status of hMLH1, MGMT, APC, and CDH1 genes in patients with colon adenocarcinoma.
25871621 2015 Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression.
25804231 2015 Polymorphism of DNA mismatch repair genes in endometrial cancer.
25791328 2015 DNA methylation analysis of cancer-related genes in oral epithelial cells of healthy smokers.
25762362 2015 Lynch syndrome associated with two MLH1 promoter variants and allelic imbalance of MLH1 expression.
25742745 2015 Concomitant mutation and epimutation of the MLH1 gene in a Lynch syndrome family.
25664706 2015 Lymph node yield after colectomy for cancer: is absence of mismatch repair a factor?
25598504 2015 Association between genetic polymorphisms in DNA mismatch repair-related genes with risk and prognosis of head and neck squamous cell carcinoma.
25596266 2015 The genotype of MLH1 identifies a subgroup of follicular lymphoma patients who do not benefit from doxorubicin: FIL-FOLL study.
25576161 2015 Combined methylation of p16 and hMLH1 (CMETH2) discriminates a subpopulation with better prognosis in colorectal cancer patients with microsatellite instability tumors.
25561800 2014 Comparative study of mutations in SNP loci of K-RAS, hMLH1 and hMSH2 genes in neoplastic intestinal polyps and colorectal cancer.
25560462 2015 Intronic and promoter polymorphisms of hMLH1/hMSH2 and colorectal cancer risk in Heilongjiang Province of China.
25557234 2015 Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome colorectal cancer.
25528216 2015 Loss of MLH1 confers resistance to PI3K? inhibitors in renal clear cell carcinoma with SETD2 mutation.
25526032 2014 DNA mismatch repair gene MLH1 induces apoptosis in prostate cancer cells.
25421847 2014 Haplotype defined by the MLH1-93G/A polymorphism is associated with MLH1 promoter hypermethylation in sporadic colorectal cancers.
25416956 2014 A proteome-scale map of the human interactome network.
25280751 2014 Tumour MLH1 promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC).
25252713 2014 Factors modifying the risk for developing acute skin toxicity after whole-breast intensity modulated radiotherapy.
25216868 2014 Clinicopathological and genetic features of Chinese hereditary nonpolyposis colorectal cancer (HNPCC).
25215298 2014 Involvement of p53 mutation and mismatch repair proteins dysregulation in NNK-induced malignant transformation of human bronchial epithelial cells.
25200962 2014 Molecular screening in Sicilian families with hereditary non-poliposis colorectal cancer (H.N.P.C.C.) syndrome: identification of a novel mutation in MSH2 gene.
25133505 2014 The mutational spectrum of Lynch syndrome in cyprus.
25115745 2014 Effect of MLH1 -93G>A on gene expression in patients with colorectal cancer.
25107687 2014 MLH1 and MSH2 mutation screening in HNPCC families of Hungary - Two new MMR gene mutations.
25083964 2014 Immunohistochemical survey of mismatch repair protein expression in uterine sarcomas and carcinosarcomas.
25047469 2014 The hMLH1 -93G>A promoter polymorphism is associates with outcomes in oral squamous cell carcinoma patients.
24995467 2015 Expression of DNA mismatch repair proteins MLH1, MSH2, and MSH6 in recurrent glioblastoma.
24990217 2014 Prognostic significance of hMLH1/hMSH2 gene mutations and hMLH1 promoter methylation in sporadic colorectal cancer.
24989436 2015 A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays.
24971578 2014 MutL? heterodimers modify the molecular phenotype of Friedreich ataxia.
24966277 2014 Crosstalk between BRCA-Fanconi anemia and mismatch repair pathways prevents MSH2-dependent aberrant DNA damage responses.
24964857 2014 DNA methylation alterations of AXIN2 in serrated adenomas and colon carcinomas with microsatellite instability.
24938706 2014 Aberrant DNA methylation of MGMT and hMLH1 genes in prediction of gastric cancer.
24874052 2014 Expression of MLH1 and MSH2 in urothelial carcinoma of the renal pelvis.
24811117 2014 Confirmed pathogenic effect of a splice site variation in the MLH1 gene causing Lynch syndrome.
24802709 2014 A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns.
24793746 2014 The prognostic significance of polymorphisms in hMLH1/hMSH2 for colorectal cancer.
24748501 2015 Predictive value of CHFR and MLH1 methylation in human gastric cancer.
24743384 2014 The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals.
24643686 2014 Immunohistochemical expression pattern of MMR protein can specifically identify patients with colorectal cancer microsatellite instability.
24595079 2013 Molecular analysis of imperative polymorphisms of MLH1 gene in sporadic colorectal cancer.
24456667 2014 Reduced migration of MLH1 deficient colon cancer cells depends on SPTAN1.
24444820 2014 Mismatch repair protein expression in 1049 endometrial carcinomas, associations with body mass index, and other clinicopathologic variables.
24400091 2014 Promoter methylation of MLH1, PMS2, MSH2 and p16 is a phenomenon of advanced-stage HCCs.
24360395 Promoter hypermethylation of DNA repair genes MLH1 and MSH2 in adenocarcinomas and squamous cell carcinomas of the lung.
24333619 2014 Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors.
24329813 2014 Relationship between the epithelial expression of hMLH1, MDM2, and p63 and lower lip carcinogenesis.
24323032 2014 Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.
24317816 2014 Promoter methylation and immunohistochemical expression of hMLH1 and hMSH2 in sporadic colorectal cancer: a study from India.
24308239 2013 Expression of genes responsible for the repair of mispaired bases of the DNA (MLH1) in invasive ductal breast carcinoma.
24302565 2015 Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24259277 2013 Reduction of MLH1 and PMS2 confers temozolomide resistance and is associated with recurrence of glioblastoma.
24205245 2013 Expression of the mismatch repair gene hMLH1 is enhanced in non-small cell lung cancer with EGFR mutations.
24165159 2013 GLI1 interferes with the DNA mismatch repair system in pancreatic cancer through BHLHE41-mediated suppression of MLH1.
24122742 2013 Excess of extracolonic non-endometrial multiple primary cancers in MSH2 germline mutation carriers over MLH1.
24090359 2013 Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients.
24084575 2014 The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype.
24073290 2013 Integrated analysis of mismatch repair system in malignant astrocytomas.
24035280 2013 Clinicopathological significance of SIRT1 and p300/CBP expression in gastroesophageal junction (GEJ) cancer and the correlation with E-cadherin and MLH1.
24027018 2013 Regulation of MLH1 mRNA and protein expression by promoter methylation in primary colorectal cancer: a descriptive and prognostic cancer marker study.
24022108 2014 Role of hMLH1 and E-cadherin promoter methylation in gastric cancer progression.
24004112 2013 Protein expression and methylation of DNA repair genes hMLH1, hMSH2, MGMT and BRCA1 and their correlation with clinicopathological parameters and prognosis in basal-like breast cancer.
23935509 2013 Reassembly of nucleosomes at the MLH1 promoter initiates resilencing following decitabine exposure.
23888949 2014 Utility of MLH1 methylation analysis in the clinical evaluation of Lynch Syndrome in women with endometrial cancer.
23880961 2014 Endometrial tumour BRAF mutations and MLH1 promoter methylation as predictors of germline mismatch repair gene mutation status: a literature review.
23865379 2013 Immunohistochemical analysis of mismatch proteins in carcinogenesis of the lower lip.
23817394 2013 Pattern of hMLH1, hMSH2 and hMSH6 expression and clinical characteristics in a sample of Malaysian colorectal carcinoma cases.
23804521 2014 Promoter hypermethylation of CDKN2A, MGMT, MLH1, and DAPK genes in laryngeal squamous cell carcinoma and their associations with clinical profiles of the patients.
23803092 2013 Aberrant DNA methylation of P16, MGMT, hMLH1 and hMSH2 genes in combination with the MTHFR C677T genetic polymorphism in gastric cancer.
23794306 2012 Clinical and molecular characterization of colorectal cancer in young Moroccan patients.
23787767 2013 Reduced expression of mutS homolog 2 and mutL homolog 1 affects overall survival in laryngeal squamous cell carcinoma patients: Investigation into a potential cause.
23727610 2013 Single nucleotide polymorphism in hMLH1 promoter and risk of tobacco-related oral carcinoma in high-risk Asian Indians.
23716983 2013 MGMT and MLH1 methylation in Helicobacter pylori-infected children and adults.
23712482 2013 Multivariate analysis of MLH1 c.1664T>C (p.Leu555Pro) mismatch repair gene variant demonstrates its pathogenicity.
23672086 2013 hMLH1 promoter methylation status causes different expression patterns of estrogen receptor protein with endometrial lesion progression.
23653048 2013 Influence of MLH1 on colon cancer sensitivity to poly(ADP-ribose) polymerase inhibitor combined with irinotecan.
23643670 Acidic tumor microenvironment downregulates hMLH1 but does not diminish 5-fluorouracil chemosensitivity.
23640413 2013 A study of the frequency of methylation of gene promoter regions in colorectal cancer in the Taiwanese population.
23621208 2013 Contribution of the MLH1 -93G>a promoter polymorphism in modulating susceptibility risk in Malaysian colorectal cancer patients.
23603115 2013 Ribonucleotides misincorporated into DNA act as strand-discrimination signals in eukaryotic mismatch repair.
23587910 2013 The hMLH1 promoter polymorphisms and cancer susceptibility in Asian populations: a meta-analysis.
23573243 2013 Novel DNA variants and mutation frequencies of hMLH1 and hMSH2 genes in colorectal cancer in the Northeast China population.
23555617 2013 MLH1 promoter methylation frequency in colorectal cancer patients and related clinicopathological and molecular features.
23539435 2013 MicroRNA-31-5p modulates cell cycle by targeting human mutL homolog 1 in human cancer cells.
23526924 2013 Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer.
23523787 2013 The role of EZH2 and DNA methylation in hMLH1 silencing in epithelial ovarian cancer.
23504373 2013 Significant frequency of allelic imbalance in 3p region covering RAR? and MLH1 loci seems to be essential in molecular non-small cell lung cancer diagnosis.
23434150 2013 Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?
23412991 2013 Correlation of chromosome damage and promoter methylation status of the DNA repair genes MGMT and hMLH1 in Chinese vinyl chloride monomer (VCM)-exposed workers.
23403630 2013 Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
23401454 2013 Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing lynch syndrome in a large academic medical center.
23374646 2013 Incidence of -93 MLH1 promoter polymorphism in familial and sporadic colorectal cancer.
23370766 2013 Subsets of microsatellite-unstable colorectal cancers exhibit discordance between the CpG island methylator phenotype and MLH1 methylation status.
23354017 2013 Risk of cancer in cases of suspected lynch syndrome without germline mutation.
23329266 2013 Splice site mutations in mismatch repair genes and risk of cancer in the general population.
23328702 2012 Short-term folate supplementation in physiological doses has no effect on ESR1 and MLH1 methylation in colonic mucosa of individuals with adenoma.
23283390 2013 Presence of an extra chromosome alters meiotic double-stranded break repair dynamics and MLH1 foci distribution in human oocytes.
23266441 2013 Differential clinicopathologic features in microsatellite-unstable gastric cancers with and without MLH1 methylation.
23255516 2013 Cancer risks for MLH1 and MSH2 mutation carriers.
23244153 2012 Aberrant DNA methylation of P16, MGMT, and hMLH1 genes in combination with MTHFR C677T genetic polymorphism and folate intake in esophageal squamous cell carcinoma.
23240038 2012 MLH1 region polymorphisms show a significant association with CpG island shore methylation in a large cohort of healthy individuals.
23226285 2012 Association between MLH1 -93G>a polymorphism and risk of colorectal cancer.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23155252 2012 Demethylation of the region around exon 2 of MLH1 gene in gastrointestinal cancer.
23149851 2013 Outcome and status of microsatellite stability in Japanese atomic bomb survivors with early gastric carcinoma.
23143558 2012 Estradiol regulates miR-135b and mismatch repair gene expressions via estrogen receptor-? in colorectal cells.
23100212 2012 A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia.
23098428 2012 Promoter methylation status of DNA repair gene (hMLH1) in gastric carcinoma patients of the Kashmir valley.
23086927 2012 Human mismatch repair protein hMutL? is required to repair short slipped-DNAs of trinucleotide repeats.
23073540 2012 Environmental arsenic exposure and DNA methylation of the tumor suppressor gene p16 and the DNA repair gene MLH1: effect of arsenic metabolism and genotype.
23060557 2012 Evaluation of MLH1 I219V polymorphism in unrelated South American individuals suspected of having Lynch syndrome.
23017166 2013 Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression.
22992699 2012 DNA mismatch repair deficiency in breast carcinoma: a pilot study of triple-negative and non-triple-negative tumors.
22987381 Evaluation of microsatellite instability, MLH1 expression and hMLH1 promoter hypermethylation in colorectal carcinomas among Tunisians patients.
22987364 2013 Combined analysis of three Lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers.
22940821 2012 Relationship of lower uterine segment cancer with Lynch syndrome: a novel case with an hMLH1 germline mutation.
22930430 2012 Analysis of the role of hMLH1 hypermethylation and microsatellite instability in meningioma progression.
22899370 2013 MLH1-silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes.
22883484 2013 Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer.
22878509 2013 Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry.
22865300 2013 hMSH2 and hMLH1 gene expression patterns differ between lung adenocarcinoma and squamous cell carcinoma: correlation with patient survival and response to adjuvant chemotherapy treatment.
22864660 2012 Cancer risks and immunohistochemical profiles linked to the Danish MLH1 Lynch syndrome founder mutation.
22843073 2012 MLH1 and XRCC1 polymorphisms in Mexican patients with colorectal cancer.
22776989 2012 Bethesda criteria for microsatellite instability testing: impact on the detection of new cases of Lynch syndrome.
22773173 2012 Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.
22766992 2012 Aberrant splicing caused by a MLH1 splice donor site mutation found in a young Japanese patient with Lynch syndrome.
22753075 2012 Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
22740444 2012 Humans accumulate microsatellite instability with acquired loss of MLH1 protein in hematopoietic stem and progenitor cells as a function of age.
22736432 2012 Comprehensive functional assessment of MLH1 variants of unknown significance.
22669205 2012 Missense mutations in MLH1, MSH2, KRAS, and APC genes in colorectal cancer patients in Malaysia.
22635031 2012 Case-case study of factors associated to hMLH1, hMSH2, and hMSH6 protein expression among endometrial cancer patients of the University District Hospital of San Juan, Puerto Rico.
22631669 2012 MLH1 polymorphisms and cancer risk: a meta-analysis based on 33 case-control studies.
22626277 2012 Involvement of pelvic inflammation-related mismatch repair abnormalities and microsatellite instability in the malignant transformation of ovarian endometriosis.
22552371 2012 hMLH1 promoter hypermethylation and MSI status in human endometrial carcinomas with and without metastases.
22502664 2012 Association between p16, hMLH1 and E-cadherin promoter hypermethylation and intake of local hot salted tea and sun-dried foods in Kashmiris with gastric tumors.
22498935 2012 Molecular characterization of endometrial cancer: a correlative study assessing microsatellite instability, MLH1 hypermethylation, DNA mismatch repair protein expression, and PTEN, PIK3CA, KRAS, and BRAF mutation analysis.
22456432 2012 Expression of hMLH1, hMSH2 and hMSH6 in small intestinal carcinomas.
22453149 2012 Novel germline MLH1 and MSH2 mutations in Latvian Lynch syndrome families.
22426235 The germline MLH1 K618A variant and susceptibility to Lynch syndrome-associated tumors.
22395473 2012 Q48P mutation in the hMLH1 gene associated with Lynch syndrome in three Hungarian families.
22378480 2012 Mismatch repair proteins hMLH1 and hMSH2 are differently expressed in the three main subtypes of sporadic renal cell carcinoma.
22371642 2012 Germline mutation analysis of MLH1 and MSH2 in Malaysian Lynch syndrome patients.
22368298 2012 Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification.
22331944 2012 Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study.
22306672 2012 Methylation variable position profiles of hMLH1 promoter CpG islands in human sporadic colorectal carcinoma.
22287095 2012 Loss of HLA class I and mismatch repair protein expression in sporadic endometrioid endometrial carcinomas.
22249249 2012 Candidate DNA methylation drivers of acquired cisplatin resistance in ovarian cancer identified by methylome and expression profiling.
22246327 2012 Promoter methylation of MGMT, MLH1 and RASSF1A tumor suppressor genes in head and neck squamous cell carcinoma: pharmacological genome demethylation reduces proliferation of head and neck squamous carcinoma cells.
22234160 2012 Association of genomic instability, and the methylation status of imprinted genes and mismatch-repair genes, with neural tube defects.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
22188959 [Prevalence of the expression of the MLH1 and MSH2 genes in colorectal serrated polyps and its correlation with morphological and cytoarchitectural characteristics].
22169643 2011 [Methylation of p16 and hMLH1 genes in esophageal squamous cell carcinoma and reflux esophagitis].
22156295 2012 Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency.
22145025 2011 Down-regulation of DNA mismatch repair enhances initiation and growth of neuroblastoma and brain tumour multicellular spheroids.
22144422 2012 Cancer risks for the relatives of colorectal cancer cases with a methylated MLH1 promoter region: data from the Colorectal Cancer Family Registry.
22136435 2011 The MLH1 2101C>A (Q701K) variant increases the risk of gastric cancer in Chinese males.
22086685 Microsatellite instability in young patients with sporadic colorectal adenomas.
22083523 2012 Predictive value of MGMT, hMLH1, hMSH2 and BRCA1 protein expression for pathological complete response to neoadjuvant chemotherapy in basal-like breast cancer patients.
22067334 2011 "Null pattern" of immunoreactivity in a Lynch syndrome-associated colon cancer due to germline MSH2 mutation and somatic MLH1 hypermethylation.
22022465 2011 Spreading of Alu methylation to the promoter of the MLH1 gene in gastrointestinal cancer.
22006538 2012 Assessment of three epigenotypes in colorectal cancer by combined bisulfite restriction analysis.
21988782 2012 A meta-analysis of the prevalence of somatic mutations in the hMLH1 and hMSH2 genes in colorectal cancer.
21953887 2012 Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility.
21952876 2012 Influence of eight unclassified missense variants of the MLH1 gene on Lynch syndrome susceptibility.
21911971 2011 Mismatch repair genes expression defects & association with clinicopathological characteristics in colorectal carcinoma.
21901500 2012 Two novel mutations in hMLH1 gene in Iranian hereditary non-polyposis colorectal cancer patients.
21875327 2011 MLH1 promoter methylation, diet, and lifestyle factors in mismatch repair deficient colorectal cancer patients from EPIC-Norfolk.
21849808 2011 Inactivation of COX-2, HMLH1 and CDKN2A gene by promoter methylation in gastric cancer: relationship with histological subtype, tumor location and Helicobacter pylori genotype.
21840485 2011 Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5'UTR.
21785361 2011 A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families.
21766496 Microsatellite instability and promoter hypermethylation of MLH1 and MSH2 in patients with sporadic colorectal cancer.
21747645 2011 Promoter methylation of p16(INK4A), hMLH1, and MGMT in liquid-based cervical cytology samples compared with clinicopathological findings and HPV presence.
21745804 2011 The association between MLH1 -93 G>A polymorphism of DNA mismatch repair and cancer susceptibility: a meta-analysis.
21744313 2012 Loss of expression of DNA mismatch repair proteins in aberrant crypt foci identified in vivo by magnifying colonoscopy in subjects with hereditary nonpolyposic and sporadic colon rectal cancer.
21721000 2012 Comparison of clinical schemas and morphologic features in predicting Lynch syndrome in mutation-positive patients with endometrial cancer encountered in the context of familial gastrointestinal cancer registries.
21712435 2011 Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.
21706233 2011 Promoter methylation status of hMLH1, hMSH2, and MGMT genes in colorectal cancer associated with adenoma-carcinoma sequence.
21681552 2011 Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.
21674174 2011 Aberrant methylation of different DNA repair genes demonstrates distinct prognostic value for esophageal cancer.
21671475 2012 An American founder mutation in MLH1.
21660619 2012 Clinical implications of mismatched repair gene promoter methylation in pancreatic cancer.
21642682 2011 Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
21622124 2011 Prognostic value of H-MLH1 after adjusting for RPA class in GBM patients.
21615986 2011 Distinct mutations in MLH1 and MSH2 genes in hereditary non-polyposis colorectal cancer (HNPCC) families from China.
21565826 2011 MLH1-93G > A is a risk factor for MSI colorectal cancer.
21559014 2011 Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genes.
21556900 2012 Epigenetic inactivation of hMLH1 in the malignant transformation of ovarian endometriosis.
21538028 2011 EBV-infection in cardiac and non-cardiac gastric adenocarcinomas is associated with promoter methylation of p16, p14 and APC, but not hMLH1.
21516116 2011 Next-generation sequencing to generate interactome datasets.
21513149 2010 [Association of mismatch repair gene polymorphism with susceptibility to sporadic colorectal cancer in Tianjin region].
21425258 2011 Promoter methylation and expression of MGMT and the DNA mismatch repair genes MLH1, MSH2, MSH6 and PMS2 in paired primary and recurrent glioblastomas.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21404117 2011 Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
21375764 2011 Diet folate, DNA methylation and genetic polymorphisms of MTHFR C677T in association with the prognosis of esophageal squamous cell carcinoma.
21375527 2011 Identification of new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort.
21358597 2011 Expression of DNA repair proteins MSH2, MLH1 and MGMT in human benign and malignant thyroid lesions: an immunohistochemical study.
21353335 Head and neck squamous cell carcinoma: mismatch repair immunohistochemistry and promoter hypermethylation of hMLH1 gene.
21348638 2011 Gene expression profile and mutational analysis of DNA mismatch repair genes in carcinoma prostate in Indian population.
21290340 2010 Immunoexpression and clinical significance of the PTEN and MLH1 proteins in endometrial carcinomas.
21286667 2011 Molecular analysis of Fanconi anemia and mismatch repair genes in patients with colorectal carcinoma.
21269460 2011 Initial characterization of the human central proteome.
21233718 2011 Novel MLH1 duplication identified in Colombian families with Lynch syndrome.
21213371 2011 Intensity-dependent constitutional MLH1 promoter methylation leads to early onset of colorectal cancer by affecting both alleles.
21206982 2011 Functional effects of the MLH1-93G>A polymorphism on MLH1/EPM2AIP1 promoter activity.
21169277 2011 MLH1 function is context dependent in colorectal cancers.
21156845 2011 The host genetic background of DNA repair mechanisms is an independent predictor of survival in diffuse large B-cell lymphoma.
21155023 2010 Racial differences in MLH1 and MSH2 mutation: an analysis of yellow race and white race based on the InSiGHT database.
21136174 2011 Non-truncating hMLH1 variants identified in Slovenian gastric cancer patients are not associated with Lynch Syndrome: a functional analysis report.
21122410 2010 [Expression and significance of mismatch repair genes hMLH1 and hMSH2 in sporadic colorectal carcinoma].
21120944 2011 Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
21102416 2011 Methylation of the 3p22 region encompassing MLH1 is representative of the CpG island methylator phenotype in colorectal cancer.
21093954 2011 Polymorphisms of MLH1 and MSH2 genes and the risk of lung cancer among never smokers.
21093899 2011 Endometrial cancer and genetic variation in PTEN, PIK3CA, AKT1, MLH1, and MSH2 within a population-based case-control study.
21091774 2010 Immunohistochemical expression of mismatch repair genes (hMSH2 and hMLH1) in hepatocellular carcinoma in Egypt.
21075045 2011 hMLH1 promoter methylation is an early event in oral cancer.
21070872 2011 Rapid development of colorectal neoplasia in patients with Lynch syndrome.
21056691 2011 Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.
21045259 2010 Microsatellite instability analysis and its correlation with hMLH1 repair gene hypermethylation status in esophageal pathologies including cancers.
21034533 2010 Three novel germline mutations in MLH1 and MSH2 in families with Lynch syndrome living on Jeju island, Korea.
21029181 2011 Expression of DNA repair proteins, MSH2, MLH1 and MGMT in mobile tongue squamous cell carcinoma: associations with clinicopathological parameters and patients' survival.
20978327 2010 EBV-infection in cardiac and non-cardiac gastric adenocarcinomas is associated with promoter methylation of p16, p14 and APC, but not hMLH1.
20978114 2010 An MLH1 mutation links BACH1/FANCJ to colon cancer, signaling, and insight toward directed therapy.
20967208 2010 Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer.
20937110 2010 Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families.
20864418 2010 Conservation of functional asymmetry in the mammalian MutL? ATPase.
20860725 2010 MLH1 Differential allelic expression in mutation carriers and controls.
20858721 2010 MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families.
20831982 2010 Microsatellite instability with promoter methylation and silencing of hMLH1 can regionally occur during progression of gastric carcinoma.
20815811 2011 Aberrant methylation of hMLH1 and p16INK4a in Tunisian patients with sporadic colorectal adenocarcinoma.
20811672 2010 Microsatellite instability and hMLH1 and hMSH2 expression in renal tumors.
20731661 2010 Comprehensive analysis of DNA repair gene polymorphisms and survival in patients with early stage non-small-cell lung cancer.
20717847 2011 An intronic mutation in MLH1 associated with familial colon and breast cancer.
20709753 2010 Selenium compounds activate ATM-dependent DNA damage response via the mismatch repair protein hMLH1 in colorectal cancer cells.
20708344 2011 Association between genetic polymorphisms in the XRCC1, XRCC3, XPD, GSTM1, GSTT1, MSH2, MLH1, MSH3, and MGMT genes and radiosensitivity in breast cancer patients.
20706999 2010 Cytoskeletal scaffolding proteins interact with Lynch-Syndrome associated mismatch repair protein MLH1.
20663978 2010 Estrogen stimulates the expression of mismatch repair gene hMLH1 in colonic epithelial cells.
20644561 2011 A large-scale candidate gene approach identifies SNPs in SOD2 and IL13 as predictive markers of response to preoperative chemoradiation in rectal cancer.
20640520 2010 Lynch syndrome: the influence of environmental factors on extracolonic cancer risk in hMLH1 c.C1528T mutation carriers and their mutation-negative sisters.
20603073 2010 A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair.
20603015 2010 Identification of KIAA1018/FAN1, a DNA repair nuclease recruited to DNA damage by monoubiquitinated FANCD2.
20591884 2010 Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.
20590835 2010 Role of methylation of the hMLH1 gene promoter in the development of gastric and colorectal carcinoma in the elderly.
20533529 2010 Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.
20533283 2011 MSI phenotype and MMR alterations in familial and sporadic gastric cancer.
20531010 2010 hMLH1 promoter methylation and JC virus T antigen presence in the tumor tissue of colorectal cancer Israeli patients of different ethnic groups.
20496165 2011 Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk.
20495877 2010 Magnetic resonance colonography for colorectal cancer screening in patients with Lynch syndrome gene mutation.
20489114 2010 Methylation analysis of MLH1 improves the selection of patients for genetic testing in Lynch syndrome.
20473912 2011 De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one.
20470425 2010 Decreased transcription-coupled nucleotide excision repair capacity is associated with increased p53- and MLH1-independent apoptosis in response to cisplatin.
20458443 2010 Polymorphisms in hMSH2 and hMLH1 and response to platinum-based chemotherapy in advanced non-small-cell lung cancer patients.
20453000 2010 A Large-scale genetic association study of esophageal adenocarcinoma risk.
20450746 2010 [Study on genetic polymorphism of human mismatch repair gene hMLH1 and susceptibility of papillary thyroid carcinoma in Chinese Han people].
20444249 2010 Early onset MSI-H colon cancer with MLH1 promoter methylation, is there a genetic predisposition?
20437058 2010 The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer.
20412120 2010 Frequent alterations of the candidate genes hMLH1, ITGA9 and RBSP3 in early dysplastic lesions of head and neck: clinical and prognostic significance.
20403997 2010 Genetic variation in 3-hydroxy-3-methylglutaryl CoA reductase modifies the chemopreventive activity of statins for colorectal cancer.
20373145 2010 Analysis of mismatch repair gene mutations in Turkish HNPCC patients.
20368715 2011 Tumor response is predicted by patient genetic profile in rectal cancer patients treated with neo-adjuvant chemo-radiotherapy.
20338046 2010 DNA methylation profiling in doxorubicin treated primary locally advanced breast tumours identifies novel genes associated with survival and treatment response.
20336543 2010 [Mismatch repair gene hMLH1 A655G/A polymorphism and colorectal cancer].
20332274 2010 Effects of calcium and vitamin D on MLH1 and MSH2 expression in rectal mucosa of sporadic colorectal adenoma patients.
20305446 2010 Spectrum of MLH1 and MSH2 mutations in Chilean families with suspected Lynch syndrome.
20227930 2010 Location-related differences in sporadic microsatellite unstable colorectal cancer.
20223108 2010 The expression of mismatch repair proteins MLH1, MSH2 and MSH6 correlates with the Ki67 proliferation index and survival in patients with recurrent glioblastoma.
20210238 Prognostic relevance of MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer patients.
20206180 2010 One to 2-year surveillance intervals reduce risk of colorectal cancer in families with Lynch syndrome.
20177793 2011 A new familial gastric cancer-related gene polymorphism: T1151A in the mismatch repair gene hMLH1.
20167975 2010 R659X mutation in the MLH1 gene in hereditary non-polyposis colorectal cancer(HNPCC) in an Indian extended family.
20149637 2010 Common variants in human CRC genes as low-risk alleles.
20090515 2010 Immunophenotypic evaluation of DNA mismatch repair markers in 2 cases of synchronous histomorphologically distinct gastric adenocarcinomas with gastrointestinal stromal tumors of the proximal small bowel.
20072951 2009 Immunohistochemical analysis of hMLH1 and hMSH2 proteins in serous ovarian tumours.
20063070 2010 Detection of allelic imbalance in MLH1 expression by pyrosequencing serves as a tool for the identification of germline defects in Lynch syndrome.
20060799 2010 The MLH1 -93 promoter variant influences gene expression.
20056646 2010 Population-based study of the association of variants in mismatch repair genes with prostate cancer risk and outcomes.
20028567 2009 Cancer risk in MLH1, MSH2 and MSH6 mutation carriers; different risk profiles may influence clinical management.
20020535 2010 A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
20004149 2010 Nuclear reorganization of DNA mismatch repair proteins in response to DNA damage.
19995443 2009 Three synchronous primary carcinomas in a patient with HNPCC associated with a novel germline mutation in MLH1: Case report.
19956916 2010 A polymorphism in the hMLH1 gene (-93G-->A) associated with lung cancer susceptibility and prognosis.
19946888 2010 Defining the membrane proteome of NK cells.
19936946 2010 Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer.
19930554 2009 Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers.
19900449 2010 Risk and epidemiological time trends of gastric cancer in Lynch syndrome carriers in the Netherlands.
19898223 2009 Endometrial carcinomas in women aged 40 years and younger: tumors associated with loss of DNA mismatch repair proteins comprise a distinct clinicopathologic subset.
19894224 2010 Aberrant methylation of DNA mismatch repair genes in elderly patients with sporadic gastric carcinoma: A comparison with younger patients.
19893772 2009 The identification of Lynch syndrome in British Columbia.
19888426 2009 Analysis of candidate genes in occurrence and growth of colorectal adenomas.
19876921 2010 CHEK2 mutations and HNPCC-related colorectal cancer.
19863800 2009 Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2 genes in yeast.
19861671 2009 Risk of pancreatic cancer in families with Lynch syndrome.
19861440 2009 Differential cellular responses to prolonged LDR-IR in MLH1-proficient and MLH1-deficient colorectal cancer HCT116 cells.
19858398 2009 Association of molecular markers with toxicity outcomes in a randomized trial of chemotherapy for advanced colorectal cancer: the FOCUS trial.
19856662 Loss of heterozygosity combined with promoter hypermethylation, the main mechanism of human MutL Homolog (hMLH1) gene inactivation in non-small cell lung cancer in a Chinese population.
19855373 2010 Quantitative evaluation of CpG island methylation in hyperplastic polyps.
19786217 2009 Increased microsatellite instability and epigenetic inactivation of the hMLH1 gene in head and neck squamous cell carcinoma.
19767099 2010 Alternative splicing of hMLH1 in childhood acute lymphoblastic leukaemia and characterisation of the variably expressed Delta9/10 isoform as a dominant negative species.
19760518 2009 A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations.
19741564 2009 Effect of DNA repair host factors on temozolomide or dacarbazine melanoma treatment in Caucasians.
19734583 2009 [Clinicopathologic characteristics, diagnosis, and treatment of 30 patients with hereditary nonpolyposis colorectal cancer].
19730683 2009 The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.
19728162 2009 Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome.
19723918 2009 Germ-line mutations in mismatch repair genes associated with prostate cancer.
19720893 2009 Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members.
19714462 2010 Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population.
19707776 2010 Colorectal cancer in Iran: immunohistochemical profiles of four mismatch repair proteins.
19703417 2009 A novel interaction between human DNA polymerase eta and MutLalpha.
19697618 2009 Aberrant DNA hypermethylation of hMLH-1 and CDKN2A/p16 genes in benign, premalignant and malignant endometrial lesions.
19697156 2009 Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients.
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19688281 2009 Cancer risk in a cohort of subjects carrying a single mismatch repair gene mutation.
19685281 2009 Determination of splice-site mutations in Lynch syndrome (hereditary non-polyposis colorectal cancer) patients using functional splicing assay.
19672700 2009 Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for Lynch syndrome.
19669161 2010 Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.
19665066 2009 A MLH1 polymorphism that increases cancer risk is associated with better outcome in sporadic colorectal cancer.
19661089 2009 Genetic variation in immune regulation and DNA repair pathways and stomach cancer in China.
19644562 2009 Clinical significance of epigenetic inactivation of hMLH1 and BRCA1 in Tunisian patients with invasive breast carcinoma.
19639184 2009 MLH1 protects from resistance acquisition by the histone deacetylase inhibitor trichostatin A in colon tumor cells.
19635727 2010 Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19622357 2009 Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome.
19621725 Analysis of microsatellite instability, protein expression and methylation status of hMLH1 and hMSH2 genes in gastric carcinomas.
19621678 Effectiveness of each Bethesda marker in defining microsatellite instability when screening for Lynch syndrome.
19617759 2009 Stool methylation-specific polymerase chain reaction assay for the detection of colorectal neoplasia in Korean patients.
19578765 2009 Differences in expression between transcripts using alternative promoters of hMLH1 gene and their correlation with microsatellite instability.
19567531 2009 Clinical implications of microsatellite instability and MLH1 gene inactivation in sporadic insulinomas.
19536092 2009 Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.
19526325 2009 Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome.
19515846 2009 Functions of MutLalpha, replication protein A (RPA), and HMGB1 in 5'-directed mismatch repair.
19504447 2009 [Association of MLH1 gene 415G/C polymorphism with colorectal cancer in Chinese].
19494183 2009 Intra-tumor heterogeneity of MLH1 promoter methylation revealed by deep single molecule bisulfite sequencing.
19479271 2009 Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancer.
19464205 2009 Expression of hMLH1 and hMSH2 proteins in pleomorphic adenoma of minor salivary glands: relationship with clinical and histologic findings.
19455606 2009 Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.
19424639 2009 Efficient molecular screening of Lynch syndrome by specific 3' promoter methylation of the MLH1 or BRAF mutation in colorectal cancer with high-frequency microsatellite instability.
19423536 2009 MutL-homolog 1 expression and risk of incident, sporadic colorectal adenoma: search for prospective biomarkers of risk for colorectal cancer.
19423266 2009 A new mutation in Muir-Torre syndrome associated with familiar transmission of different gastrointestinal adenocarcinomas.
19419416 2009 Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene.
19383374 2009 Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management.
19371218 2009 I219V polymorphism in hMLH1 gene in patients affected with ulcerative colitis.
19364498 2009 Polymorphisms of MLH1 in benign prostatic hyperplasia and sporadic prostate cancer.
19360343 2009 A novel germline mutation of hMLH1 in a Korean hereditary non-polyposis colorectal cancer family.
19351817 2009 Genetic mutations associated with cigarette smoking in pancreatic cancer.
19337631 2009 Introduction of cytogenetic tests in colorectal cancer screening.
19291797 2009 Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age.
19267393 2009 Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.
19259094 2009 Combined inhibition of DNA methylation and histone acetylation enhances gene re-expression and drug sensitivity in vivo.
19248199 2009 Genetic diagnosis strategy of hereditary non-polyposis colorectal cancer.
19246465 2009 Distribution of MLH1 foci and inter-focal distances in spermatocytes of infertile men.
19244167 2009 Prediction of Lynch syndrome in consecutive patients with colorectal cancer.
19237606 2009 Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk.
19215248 2009 Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations.
19207881 2009 Promoter hypermethylation of mismatch repair genes, hMLH1 and hMSH2 in oral squamous cell carcinoma.
19175039 2008 Analysis of hMLH1 and hMSH2 expression in cisplatin-treated ovarian cancer patients.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
19165197 2009 Deficient mismatch repair system in patients with sporadic advanced colorectal cancer.
19164452 2009 MGMT and MLH1 promoter methylation versus APC, KRAS and BRAF gene mutations in colorectal cancer: indications for distinct pathways and sequence of events.
19143775 2009 Surveillance colonoscopy improves survival in a cohort of subjects with a single mismatch repair gene mutation.
19142183 2009 The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome.
19132747 2009 PMS2 involvement in patients suspected of Lynch syndrome.
19127559 2009 Microsatellite instability, MLH1 promoter methylation, and BRAF mutation analysis in sporadic colorectal cancers of different ethnic groups in Israel.
19115210 2009 Common germline variation in mismatch repair genes and survival after a diagnosis of colorectal cancer.
19109866 2008 MLH1 promoter germline-methylation in selected probands of Chinese hereditary non-polyposis colorectal cancer families.
19100506 2009 Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer.
19079988 2008 [Effects of 5-Aza-2'-deoxycytidine and trichostatin A on DNA methylation and expression of hMLH1 in ovarian cancer cell line COC1/DDP].
19075283 2009 Role for genetic anticipation in Lynch syndrome.
19064572 2008 Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women.
19062740 2008 [Mutation of hMLH1 and hMSH2 genes in hereditary nonpolyposis colorectal cancer: analysis of 76 probands].
19060925 2009 Normal colorectal mucosa exhibits sex- and segment-specific susceptibility to DNA methylation at the hMLH1 and MGMT promoters.
19060904 2009 An empirical framework for binary interactome mapping.
19052983 2008 Case-only study of interactions between DNA repair genes (hMLH1, APEX1, MGMT, XRCC1 and XPD) and low-frequency electromagnetic fields in childhood acute leukemia.
19034977 2008 Helicobacter pylori infection and expression of DNA mismatch repair proteins.
19032668 2008 Expression and promoter methylation status of mismatch repair gene hMLH1 and hMSH2 in epithelial ovarian cancer.
19016758 2008 Frequent alterations of hMLH1 and RBSP3/HYA22 at chromosomal 3p22.3 region in early and late-onset breast carcinoma: clinical and prognostic significance.
19015241 2009 Characterization of a highly conserved binding site of Mlh1 required for exonuclease I-dependent mismatch repair.
18992917 2009 Differentiating the undifferentiated: immunohistochemical profile of medullary carcinoma of the colon with an emphasis on intestinal differentiation.
18990764 2008 Molecular characterization of MSI-H colorectal cancer by MLHI promoter methylation, immunohistochemistry, and mismatch repair germline mutation screening.
18990028 Genotype-phenotype relationship between DNA repair gene genetic polymorphisms and DNA repair capacity.
18972272 2008 Risk of gynecologic cancers in Danish hereditary non-polyposis colorectal cancer families.
18949393 2008 Oncoprotein Bcl-2 and microsatellite instability are associated with disease-free survival and treatment response in colorectal cancer.
18941461 2008 Microsatellite instability due to hMLH1 deficiency is associated with increased cytotoxicity to irinotecan in human colorectal cancer cell lines.
18931482 2008 Mismatch repair gene mutations in Chinese HNPCC patients.
18851982 2008 Do polymorphisms and haplotypes of mismatch repair genes modulate risk of sporadic colorectal cancer?
18841495 2009 High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriers.
18830263 2009 Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma.
18787700 2008 Human MLH1 protein participates in genomic damage checkpoint signaling in response to DNA interstrand crosslinks, while MSH2 functions in DNA repair.
18772310 2008 Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors.
18759827 2008 Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screening.
18726168 2009 Recurring MLH1 deleterious mutations in unrelated Chinese Lynch syndrome families in Singapore.
18723338 2008 Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients.
18718023 2008 Impact of BRAF, MLH1 on the incidence of microsatellite instability high colorectal cancer in populations based study.
18713544 2008 Clinical features and hMSH2/hMLH1 germ-line mutations in Chinese patients with hereditary nonpolyposis colorectal cancer.
18713157 2008 Role of DNA repair systems in malignant tumor development in the elderly.
18712731 2008 MLH1 -93G>A promoter polymorphism and risk of mismatch repair deficient colorectal cancer.
18708397 2008 Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1,914 individuals undergoing clinical genetic testing in the United States.
18701435 2008 Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
18692554 2008 Exclusive KRAS mutation in microsatellite-unstable human colorectal carcinomas with sequence alterations in the DNA mismatch repair gene, MLH1.
18683754 2008 [Influence of mifepristone on DNA repair genes and cisplatin sensitivity in human ovarian cancer drug-resistance cells].
18683134 2008 [Association of genetic polymorphisms and haplotypes in hMLH1 and hMSH3 gene with the risk of papillary thyroid carcinoma].
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18646042 2008 Expression of mismatch repair proteins, hMLH1/hMSH2, in non-small cell lung cancer tissues and its clinical significance.
18641418 2008 DNA repair polymorphisms and the risk of stomach adenocarcinoma and severe chronic gastritis in the EPIC-EURGAST study.
18627000 2008 Influence of DNA repair gene polymorphisms on the initial repair of MMS-induced DNA damage in human lymphocytes as measured by the alkaline comet assay.
18624996 2008 Molecular epidemiological and mutational analysis of DNA mismatch repair (MMR) genes in endometrial cancer patients with HNPCC-associated familial predisposition to cancer.
18623088 2008 IGF1 is a modifier of disease risk in hereditary non-polyposis colorectal cancer.
18618713 2008 Redundant DNA methylation in colorectal cancers of Lynch-syndrome patients.
18615680 2008 The MLH1 -93 G>A promoter polymorphism and genetic and epigenetic alterations in colon cancer.
18594839 2008 Two new MLH1 germline mutations in Brazilian Lynch syndrome families.
18594535 2008 DLEC1 and MLH1 promoter methylation are associated with poor prognosis in non-small cell lung carcinoma.
18581137 2008 Reduced mRNA expression in paraffin-embedded tissue identifies MLH1- and MSH2-deficient colorectal tumours and potential mutation carriers.
18566915 2009 Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.
18561205 2008 A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
18559504 2008 Epigenetic signatures of familial cancer are characteristic of tumor type and family category.
18554281 2008 Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations.
18547406 2008 The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population.
18543228 2008 [Comparison of clinical and genetic phenotypes between Chinese and Korean hereditary nonpolyposis colorectal cancer families].
18523027 2009 Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors.
18497967 2008 Expression of the hMLH1 gene is a possible predictor for the clinical response to 5-fluorouracil after a surgical resection in colorectal cancer.
18481196 2008 Higher occurrence of childhood cancer in families with germline mutations in BRCA2, MMR and CDKN2A genes.
18480060 2008 DNA mismatch repair-dependent activation of c-Abl/p73alpha/GADD45alpha-mediated apoptosis.
18470905 2008 Hypermethylation of the DNA mismatch repair gene hMLH1 and its association with lymph node metastasis and T1799A BRAF mutation in patients with papillary thyroid cancer.
18405947 2008 Ovarian cancer risk is associated with a common variant in the promoter sequence of the mismatch repair gene MLH1.
18393252 2008 [Mutation screening of MLH1 and MSH2 genes in two Chinese families with hereditary nonpolyposis colorectal cancer].
18373977 2008 The interplay between hMLH1 and hMRE11: role in MMR and the effect of hMLH1 mutations.
18364438 2008 Common variants in mismatch repair genes and risk of colorectal cancer.
18345027 2008 Human mismatch repair gene, MLH1, is transcriptionally repressed by the hypoxia-inducible transcription factors, DEC1 and DEC2.
18339680 2008 Associations of dietary methyl donor intake with MLH1 promoter hypermethylation and related molecular phenotypes in sporadic colorectal cancer.
18331286 2008 Immunoexpression of hMSH2 and hMLH1 in oral squamous cell carcinoma and its relationship to histological grades of malignancy.
18325052 2008 Implications of mismatch repair genes hMLH1 and hMSH2 in patients with sporadic renal cell carcinoma.
18301449 2008 Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC.
18299982 2008 Sporadic colon cancer: mismatch repair immunohistochemistry and microsatellite instability in Omani subjects.
18289827 2008 Difficulties in recognizing families with Hereditary Non-polyposis Colorectal Carcinoma. Presentation of 4 families with proven mutation.
18270339 2008 Comprehensive analysis of DNA repair gene variants and risk of meningioma.
18265677 2007 MSI is frequently recognized among gastric cancer patients with a family history of cancer.
18257912 2008 Detection of mismatch repair gene germline mutation carrier among Chinese population with colorectal cancer.
18206974 2008 Direct visualization of asymmetric adenine-nucleotide-induced conformational changes in MutL alpha.
18205192 2008 The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation.
18202787 2008 Overexpression of hMSH2 and hMLH1 protein in certain gastric cancers and their surrounding mucosae.
18200512 2008 Evaluation of the MLH1 I219V alteration in DNA mismatch repair activity and ulcerative colitis.
18199718 2008 Aberrant DNA methylation of P16, MGMT, and hMLH1 genes in combination with MTHFR C677T genetic polymorphism in esophageal squamous cell carcinoma.
18193434 2008 Clinicopathologic and molecular features of sporadic microsatellite- and chromosomal-stable colorectal cancers.
18177869 2008 Association between folate metabolism-related gene polymorphisms and methylation of p16(INK4A) and hMLH1 genes in spontaneously aborted embryos with normal chromosomal integrity.
18161865 2008 Poorly differentiated colorectal adenocarcinomas show higher rates of microsatellite instability and promoter methylation of p16 and hMLH1: a study matched for T classification and tumor location.
18157157 2008 Mechanisms and functions of DNA mismatch repair.
18097574 2008 Fhit, Mlh1, P53 and phenotypic expression in the early stage of colorectal neoplasms.
18094436 2007 Analysis of hMLH1 missense mutations in East Asian patients with suspected hereditary nonpolyposis colorectal cancer.
18069769 2007 Two novel germline mutations of MLH1 and investigation of their pathobiology in hereditary non-polyposis colorectal cancer families in China.
18061181 2008 Validation and extension of the PREMM1,2 model in a population-based cohort of colorectal cancer patients.
18056700 2008 Evidence that a mutation in the MLH1 3'-untranslated region confers a mutator phenotype and mismatch repair deficiency in patients with relapsed leukemia.
18053639 2008 Low hMLH1 expression prior to definitive chemoradiotherapy predicts poor prognosis in esophageal squamous cell carcinoma.
18049911 2008 The extracolonic cancer spectrum in females with the common 'South African' hMLH1 c.C1528T mutation.
18033691 2008 Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.
18005136 2008 Mutant L Homologue 1 (MLH1): a possible new immunohistochemical marker for prostatic cancer.
17996647 2007 Role of nucleosomal occupancy in the epigenetic silencing of the MLH1 CpG island.
17987798 2007 Microsatellite instability (MSI) and MLH1 and MSH2 protein expression analysis in postmenopausal women with sporadic endometrial cancer.
17973250 2008 Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome.
17967441 2007 Thymosin beta 4 expression and nuclear transport are regulated by hMLH1.
17959715 2008 Polymorphic MLH1 and risk of cancer after methylating chemotherapy for Hodgkin lymphoma.
17939062 2008 Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC).
17917741 2008 Stage IV early gastric cancer: two cases with microsatellite instability.
17914563 2007 Decreased expression of hMLH1 correlates with reduced 5-fluorouracil-mediated apoptosis in colon cancer cells.
17870204 2008 Polymorphisms in hMLH1 and risk of early-onset lung cancer in a southeast Chinese population.
17786961 2007 Left-Sided microsatellite unstable colorectal cancers show less frequent methylation of hMLH1 and CpG island methylator phenotype than right-sided ones.
17785078 2007 [Screening the hereditary nonpolyposis colorectal cancer by revised Bethesda guideline: a cohort study of 110 cases].
17715146 2007 Physical and functional interactions between Werner syndrome helicase and mismatch-repair initiation factors.
17711772 2007 Significance and mechanism of microsatellite instability in laryngeal squamous cell carcinoma.
17690979 2007 A single nucleotide substitution (-107C-->G) in the hMLH1 promoter found in colorectal cancer population reduces transcriptional activity.
17671701 2007 Expression of Fhit, Mlh1, p16INK4A and E-cadherin in early gastric neoplasia: Correlation with histological grade and gastric phenotype.
17653898 2007 Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome.
17652529 2007 Mismatch repair genes hMLH1 and hMSH2 may not play an essential role in breast carcinogenesis.
17591929 2007 Evaluation of markers for CpG island methylator phenotype (CIMP) in colorectal cancer by a large population-based sample.
17584637 2007 [Microsatellite analysis and hMLH1/hMSH2 expression detection in young patients with colorectal cancer: value in screening hereditary nonpolyposis colorectal cancer].
17581638 2007 The FANCJ/MutLalpha interaction is required for correction of the cross-link response in FA-J cells.
17573746 2007 Microsatellite instability and MLH1 hypermethylation - incidence and significance in colorectal polyps in young patients.
17569143 2007 Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing.
17546041 2007 Assessment of MLH1 promoter methylation in relation to gene expression requires specific analysis.
17545526 2007 Distinction of hereditary nonpolyposis colorectal cancer and sporadic microsatellite-unstable colorectal cancer through quantification of MLH1 methylation by real-time PCR.
17510385 2007 Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
17509026 2007 Aberrant DNA methylation in non-neoplastic gastric mucosa of H. Pylori infected patients and effect of eradication.
17505997 2007 Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer.
17498565 2007 A new interphase fluorescence in situ hybridization approach for genomic rearrangements involving MLH1 and MSH6 in hereditary nonpolyposis colorectal cancer-suspected mutation-negative patients.
17493242 2007 DNA mismatch repair protein expression and microsatellite instability in primary mucosal melanomas of the head and neck.
17473388 2007 A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations.
17465465 2007 Microsatellite instability and MLH1 promoter hypermethylation in colorectal cancer.
17454882 2007 Prevention of colorectal cancer by colonoscopic surveillance in families with hereditary colorectal cancer.
17440981 2007 Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.
17426439 A novel role for DNA mismatch repair and the autophagic processing of chemotherapy drugs in human tumor cells.
17417778 2007 Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer.
17374836 2007 MLH1 -93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer.
17367211 2007 Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.
17348456 Nationwide study of clinical and molecular features of hereditary non-polyposis colorectal cancer (HNPCC) in Latvia.
17316416 2007 Microsatellite-unstable mucinous colorectal carcinoma occurring in the elderly: comparison with medullary type poorly differentiated adenocarcinoma.
17312306 2007 Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.
17301300 2007 Inheritance of a cancer-associated MLH1 germ-line epimutation.
17276933 2007 Low frequency of promoter methylation of O6-methylguanine DNA methyltransferase and hMLH1 in ulcerative colitis-associated tumors: comparison with sporadic colonic tumors.
17275176 2007 Co-repression of mismatch repair gene expression by hypoxia in cancer cells: role of the Myc/Max network.
17260015 2007 Mechanisms of inactivation of MLH1 in hereditary nonpolyposis colorectal carcinoma: a novel approach.
17230510 2007 Evidence for heritable predisposition to epigenetic silencing of MLH1.
17228328 2007 Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer.
17224235 2007 The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1.
17219447 2007 Inactivation of human mutL homolog 1 and mutS homolog 2 genes in head and neck squamous cell carcinoma tumors and leukoplakia samples by promoter hypermethylation and its relation with microsatellite instability phenotype.
17208239 2007 Small-bowel adenocarcinoma diagnosed via capsule endoscopy in a patient found to have hereditary nonpolyposis colorectal cancer.
17205513 2007 Mismatch repair polymorphisms and the risk of colorectal cancer.
17203532 2006 Novel MLH1 frameshift mutation in an extended hereditary nonpolyposis colorectal cancer family.
17160686 2007 Assessment of microsatellite instability in colorectal carcinoma at an Indian center.
17148452 2007 Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2.
17135187 2006 Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair.
17109103 2007 The role of chemotherapy in microsatellite unstable (MSI-H) colorectal cancer.
17108146 2006 DNA repair and cell cycle control genes and the risk of young-onset lung cancer.
17095871 2006 Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in Germany.
17076561 2006 Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.
17074586 2006 Single-nucleotide polymorphisms of mismatch repair genes in healthy Chinese individuals and sporadic colorectal cancer patients.
17011982 2006 Variations in exon 7 of the MSH2 gene and susceptibility to gastrointestinal cancer in a Chinese population.
16995940 2006 In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
16985024 2006 Endometrial cancer risk is associated with variants of the mismatch repair genes MLH1 and MSH2.
16984616 2006 Age-related alteration in the association of microsatellite instability with absent hMLH1 expression and histological types of colorectal carcinoma.
16984511 2006 Loss of hMLH1 expression is associated with less aggressive clinicopathological features in sporadic endometrioid endometrial adenocarcinoma.
16951290 2006 EASI--enrichment of alternatively spliced isoforms.
16951227 2006 DNA repair pathway profiling and microsatellite instability in colorectal cancer.
16940983 2006 MSH6 germline mutations in early-onset colorectal cancer patients without family history of the disease.
16929514 2006 Germline mutations and polymorphic variants in MMR, E-cadherin and MYH genes associated with familial gastric cancer in Jiangsu of China.
16908935 2006 Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium.
16902769 2007 Novel hMSH2, hMSH6 and hMLH1 gene mutations and microsatellite instability in sporadic colorectal cancer.
16885385 2006 Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.
16874859 2006 Risk of colon cancer in hereditary non-polyposis colorectal cancer patients as predicted by fuzzy modeling: Influence of smoking.
16873062 2006 Endonucleolytic function of MutLalpha in human mismatch repair.
16873053 2006 MutLalpha: at the cutting edge of mismatch repair.
16810763 2006 Clinical and genetic characteristics of Chinese hereditary nonpolyposis colorectal cancer families.
16807412 2006 Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.
16803849 2006 Variation in MLH1 distribution in recombination maps for individual chromosomes from human males.
16786121 2006 Loss of protein expression of hMLH1 and hMSH2 with double primary carcinomas of the stomach and colorectum.
16774946 2006 Common variants in mismatch repair genes and risk of invasive ovarian cancer.
16773692 2006 Immunohistochemical expression of mismatch repair genes: a screening tool for predicting mutator phenotype in liver fluke infection-associated intrahepatic cholangiocarcinoma.
16771955 2006 Mismatch repair polymorphisms and colorectal polyps: hMLH1-93G>A variant modifies risk associated with smoking.
16756717 2006 HOXA5 regulates hMLH1 expression in breast cancer cells.
16740762 2006 Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study.
16724696 DNA methylation in esophageal diseases including cancer: special reference to hMLH1 gene promoter status.
16724012 2006 Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features.
16713580 2006 ATR kinase activation mediated by MutSalpha and MutLalpha in response to cytotoxic O6-methylguanine adducts.
16699861 2006 Promoter methylation profile in gallbladder cancer.
16696788 2006 Clinical performance of original and revised Bethesda guidelines for the identification of MSH2/MLH1 gene carriers in patients with newly diagnosed colorectal cancer: proposal of a new and simpler set of recommendations.
16684085 2006 Immunohistochemistry detects mismatch repair gene defects in colorectal cancer.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
16636019 2006 Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer.
16619216 2006 Hypermethylation of hMLH1, HPP1, p14(ARF), p16(INK4A) and APC in primary adenocarcinomas of the small bowel.
16569647 2006 Microsatellite instability and methylation of the DNA mismatch repair genes in head and neck cancer.
16541406 2006 Distinct patterns of germ-line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC).
16531764 2006 Hypermethylation of the MLH1 promoter with concomitant absence of transcript and protein occurs in small patches of crypt cells in unaffected mucosa from sporadic colorectal carcinoma.
16474933 2006 Association between the MLH1 gene and longevity.
16451135 2006 Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).
16436636 2006 Mutually exclusive promoter hypermethylation patterns of hMLH1 and O6-methylguanine DNA methyltransferase in colorectal cancer.
16426918 2006 Mismatch repair genes in renal cortical neoplasms.
16403449 2006 Analysis of the human MutLalpha.MutSalpha complex.
16395668 2006 Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.
16357104 2006 Identification of a splicing enhancer in MLH1 using COMPARE, a new assay for determination of relative RNA splicing efficiencies.
16356174 2005 Mutations in APC, CTNNB1 and K-ras genes and expression of hMLH1 in sporadic colorectal carcinomas from the Netherlands Cohort Study.
16353134 2006 Age of diagnosis of colorectal cancer in HNPCC patients is more complex than that predicted by R72P polymorphism in TP53.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16341550 2006 Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.
16331552 2005 The analysis for identifying large DNA fragment aberrations of MSH2 and MLH1 genes from familial colorectal cancer in China.
16329043 2006 Molecular alterations of monophasic synovial sarcoma: loss of chromosome 3p does not alter RASSF1 and MLH1 transcriptional activity.
16293975 2005 Microsatellite instability caused by hMLH1 promoter methylation increases with tumor progression in right-sided sporadic colorectal cancer.
16285940 2005 MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer.
16237223 2005 Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6.
16234028 2005 Chromoendoscopic colonoscopy for detecting preneoplastic lesions in hereditary nonpolyposis colorectal cancer syndrome.
16203774 2005 High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genes.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
16188885 2005 Human mismatch repair: reconstitution of a nick-directed bidirectional reaction.
16172101 2005 Association of cytokine and DNA repair gene polymorphisms with hepatitis B-related hepatocellular carcinoma.
16143124 2005 Characterization of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patients.
16116158 2005 Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer.
16106253 2005 The role of MLH1, MSH2 and MSH6 in the development of multiple colorectal cancers.
16086119 2005 Microsatellite instability is linked to loss of hMLH1 expression in advanced gastric cancers: lack of a relationship with the histological type and phenotype.
16083711 2005 Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
16061855 2005 Promoter hypermethylation is the predominant mechanism in hMLH1 and hMSH2 deregulation and is a poor prognostic factor in nonsmoking lung cancer.
16012876 2005 Expression of mismatch repair enzymes, hMLH1 and hMSH2 is not associated with microsatellite instability and P53 protein accumulation in basal cell carcinoma.
16003840 2005 Genomic rearrangements in MSH2 and MLH1 are rare mutational events in Spanish patients with hereditary nonpolyposis colorectal cancer.
15996210 2005 Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia.
15991064 2005 Low allele frequency of MLH1 D132H in American colorectal and endometrial cancer patients.
15958648 2005 Genetic polymorphisms of selected DNA repair genes, estrogen and progesterone receptor status, and breast cancer risk.
15952990 2005 Frequency of hereditary non-polyposis colorectal cancer among Uruguayan patients with colorectal cancer.
15944788 2005 Methylation of the MLH1 gene in hematological malignancies.
15923275 2006 Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family.
15918206 2005 HMLH1 gene mutation in gastric cancer patients and their kindred.
15904475 2005 Effect of Helicobacter pylori infection on the expression of DNA mismatch repair protein.
15870899 2005 Immunohistochemical detection of hMLH1 and hMSH2 proteins in vulvar carcinoma.
15862756 2005 Identification of predictive factors for the occurrence of predisposing MLH1 and MSH2 germline mutations among Sardinian patients with colorectal carcinoma.
15858146 2005 Analysis of hMLH1 and hMSH2 gene dosage alterations in hereditary nonpolyposis colorectal cancer patients by novel methods.
15855819 2005 Defective DNA mismatch repair in long-term (> or =3 years) survivors with pancreatic cancer.
15849733 2005 Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.
15832775 Altered expression of the DNA mismatch repair proteins hMLH1 and hMSH2 in cutaneous dysplastic nevi and malignant melanoma.
15831578 2005 Accuracy of MSI testing in predicting germline mutations of MSH2 and MLH1: a case study in Bayesian meta-analysis of diagnostic tests without a gold standard.
15816455 Correlation between hMLH1/hMSH2 and p53 protein expression in sporadic colorectal cancer.
15807307 2005 Immunohistochemical expression of DNA mismatch repair (MMR) system proteins (hMLH1, hMSH2) in cervical preinvasive and invasive lesions.
15786548 2005 Clinicopathological and molecular genetic analysis of HNPCC in China.
15782118 2005 BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes.
15774782 2005 Psychological impact of genetic testing for hereditary nonpolyposis colorectal cancer.
15769334 2004 [Study on the relationship between genetic polymorphism Val384Asp in hMLH1 gene and the risk of four different carcinomas].
15754314 2005 Characterization of the nuclear import of human MutLalpha.
15749592 2005 The mechanism of microsatellite instability is different in synchronous and metachronous colorectal cancer.
15735976 2005 Expression of the hMLH1 and hMSH2 proteins in normal tissues: relationship to cancer predisposition in hereditary non-polyposis colon cancer.
15713769 2005 Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.
15696491 2005 [Large genomic deletions of mismatch repair genes in Chinese patients with hereditary nonpolyposis colorectal cancer].
15626886 2004 Susceptibility to refractory ulcerative colitis is associated with polymorphism in the hMLH1 mismatch repair gene.
15613860 2005 Value of immunohistochemical detection of DNA mismatch repair proteins in predicting germline mutation in hereditary colorectal neoplasms.
15596632 2004 Tobacco use and increased colorectal cancer risk in patients with hereditary nonpolyposis colorectal cancer (Lynch syndrome).
15583832 2005 The profile of hMLH1 methylation and microsatellite instability in colorectal and non-small cell lung cancer.
15583422 2004 Analysis of candidate genes for prostate cancer.
15571801 2004 Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer.
15558497 2005 Extreme heterogeneity in the molecular events leading to the establishment of chiasmata during meiosis i in human oocytes.
15520370 2004 Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15475387 2004 Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.
15467433 2004 Mismatch repair gene expression and genetic instability in testicular germ cell tumor.
15466831 2004 The novel germline mutation of the hMLH1 gene in a case of suspected hereditary non-polyposis colorectal cancer (HNPCC) in a patient with no family history of cancer.
15382050 2004 -93G-->A polymorphism of hMLH1 and risk of primary lung cancer.
15375803 Colorectal cancer prevention.
15365996 2004 Ten novel MSH2 and MLH1 germline mutations in families with HNPCC.
15365995 2004 Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.
15342696 2004 BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing.
15340264 2004 Genotyping possible polymorphic variants of human mismatch repair genes in healthy Korean individuals and sporadic colorectal cancer patients.
15309712 2004 Clinical features and mismatch repair gene mutation screening in Chinese patients with hereditary nonpolyposis colorectal carcinoma.
15309527 2004 Promoter methylation and expression of DNA repair genes hMLH1 and MGMT in acute myeloid leukemia.
15300854 2004 RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.
15241839 2004 Psychologic distress after disclosure of genetic test results regarding hereditary nonpolyposis colorectal carcinoma.
15240532 2004 The acquisition of hMLH1 methylation in plasma DNA after chemotherapy predicts poor survival for ovarian cancer patients.
15226443 2004 ATM-mediated stabilization of hMutL DNA mismatch repair proteins augments p53 activation during DNA damage.
15216397 2004 Microsatellite instability and hMLH1 and hMSH2 gene expression in Taiwanese hereditary nonpolyposis colorectal cancer.
15200905 2004 [Clinical features and hMSH2/hMLH1 germline mutation screening of Chinese hereditary nonpolyposis colorectal cancer patients].
15184898 2004 The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer.
15161053 Altered expression and new mutations in DNA mismatch repair genes MLH1 and MSH2 in melanoma brain metastases.
15159312 2004 High-throughput association testing on DNA pools to identify genetic variants that confer susceptibility to acute myeloid leukemia.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
15139004 2004 HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.
15087450 2004 Proteolysis of the mismatch repair protein MLH1 by caspase-3 promotes DNA damage-induced apoptosis.
15083191 2004 Impairment of MLH1 and CDKN2A in oncogenesis of laryngeal cancer.
15064764 2004 Germline epimutation of MLH1 in individuals with multiple cancers.
15062061 2004 [Clinical analysis and molecular genetic study of hereditary nonpolyposis colorectal cancer kindreds].
15043284 2004 Acceptance of and attitude toward genetic testing for hereditary nonpolyposis colorectal cancer: a comparison of participants and nonparticipants in genetic counseling.
14985405 2004 A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability.
14961575 2004 Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.
14871813 2004 Loss of MSH3 protein expression is frequent in MLH1-deficient colorectal cancer and is associated with disease progression.
14767526 2004 Correlation among loss of heterozygosity, promoter methylation and protein expression of MLH1 in larynx cancer.
14760534 2004 Correlation between patterns of DNA mismatch repair hmlh1 and hmsh2 protein expression and progression of dysplasia in intraductal papillary mucinous neoplasms of the pancreas.
14726676 2004 Evaluation of microsatellite instability, hMLH1 expression and hMLH1 promoter hypermethylation in defining the MSI phenotype of colorectal cancer.
14716824 2004 Genetic detection of Chinese hereditary nonpolyposis colorectal cancer.
14714570 2003 hMLH1 and hMSH2 gene mutations are present in radial growth-phase cutaneous malignant melanoma cell lines and can be induced further by ultraviolet-B irradiation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14688830 2003 hMLH1 and hMSH2 somatic inactivation mechanisms in sporadic colorectal cancer patients.
14676842 2004 Characterization of human exonuclease 1 in complex with mismatch repair proteins, subcellular localization and association with PCNA.
14645426 2003 Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis.
14635101 2003 Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.
14632210 2003 Microsatellite instability is associated with hypermethylation of the hMLH1 gene and reduced gene expression in mycosis fungoides.
14631366 2004 Microsatellite instability and expression of hMLH1 and hMSH2 proteins in ovarian endometrioid cancer.
14625810 2003 Variable continental distribution of polymorphisms in the coding regions of DNA-repair genes.
14574163 2003 Does the occurrence of certain rare cancers indicate an inherited cancer susceptibility?
14562278 2003 Possible association between tumor-suppressor gene mutations and hMSH2/hMLH1 inactivation in alveolar soft part sarcoma.
14555508 2003 Reduced MLH1 expression after chemotherapy is an indicator for poor prognosis in esophageal cancers.
14529665 2003 Gynecologic screening in hereditary nonpolyposis colorectal cancer.
14526391 2003 Missense mutations in hMLH1 and hMSH2 are associated with exonic splicing enhancers.
14510941 2003 Role of DNA mismatch repair genetic polymorphisms in the risk of childhood acute lymphoblastic leukaemia.
14508843 2003 High-resolution methylation analysis of the hMLH1 promoter in sporadic endometrial and colorectal carcinomas.
14506639 2003 Molecular pathology of atypical polypoid adenomyoma of the uterus.
14504054 2003 Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases.
12957287 2003 Genetics supersedes epigenetics in colon cancer phenotype.
12939400 2003 Potential role of MLH1 in the induction of p53 and apoptosis by blocking transcription on damaged DNA templates.
12938096 2003 Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques.
12930688 2003 [Mutation analysis on MSH2 and MLH1 genes in patients of colorectal cancer at early age].
12920342 Electro-oculographic and electroretinographic studies in HNPCC gene mutation carriers.
12919140 2003 Low mutation rate of hMSH2 and hMLH1 in Taiwanese hereditary non-polyposis colorectal cancer.
12919137 2003 Germline hMLH1 promoter mutation in a Newfoundland HNPCC kindred.
12817878 2003 Expression of the DNA mismatch repair proteins (hMLH1 and hMSH2) in infiltrating pancreatic cancer and its relation to some phenotypic features.
12808326 2003 Characterization of mutator pathway in younger-age-onset colorectal adenocarcinomas.
12805408 2003 Cell type-dependent regulation of hMLH1 promoter activity is influenced by the presence of multiple redundant elements.
12799449 2003 N-terminus of hMLH1 confers interaction of hMutLalpha and hMutLbeta with hMutSalpha.
12727890 2003 Methylation-induced G(2)/M arrest requires a full complement of the mismatch repair protein hMLH1.
12713560 2003 Microsatellite instability in esophageal squamous cell carcinoma is not associated with hMLH1 promoter hypermethylation.
12712438 2003 Differential expression of hMLH1 and hMSH2 is related to bladder cancer grade, stage and prognosis but not microsatellite instability.
12700670 2003 Frequent hypermethylation of MLH1 promoter in normal endometrium of patients with endometrial cancers.
12696065 2003 Biallelic somatic inactivation of the mismatch repair gene MLH1 in a primary skin melanoma.
12684691 2003 Global DNA methylation in relation to hMLH1 and hMSH2 protein immunoreactivity in sporadic human endometrial carcinomas.
12684669 2003 Alterations in PMS2, MSH2 and MLH1 expression in human prostate cancer.
12679904 2003 Mutation and methylation of hMLH1 in gastric carcinomas with microsatellite instability.
12660027 2003 Three new mutations in hereditary nonpolyposis colorectal cancer (Lynch syndrome II) in Uruguay.
12658575 2003 Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.
12655564 2003 Genetic analysis of familial colorectal cancer in Israeli Arabs.
12655562 2003 Identification of six novel MSH2 and MLH1 germline mutations in HNPCC.
12627520 2003 Microsatellite instability and expression of MLH1 and MSH2 in carcinomas of the small intestine.
12627505 2003 Frequency of loss of hMLH1 expression in colorectal carcinoma increases with advancing age.
12622604 2003 Genetic counseling and testing in families with hereditary nonpolyposis colorectal cancer.
12605036 2003 Promoter hypermethylation and inactivation of hMLH1, a DNA mismatch repair gene, in head and neck squamous cell carcinoma.
12592365 2003 CpG methylation of MGMT and hMLH1 promoter in hepatocellular carcinoma associated with hepatitis viral infection.
12592341 2003 Microsatellite instability and hMLH1 promoter hypermethylation in Richter's transformation of chronic lymphocytic leukemia.
12584560 2003 Interactions of the DNA mismatch repair proteins MLH1 and MSH2 with c-MYC and MAX.
12529664 2003 Methylation of the hMLH1 promoter and its association with microsatellite instability in acute myeloid leukemia.
12513688 2003 Human mismatch-repair protein MutL homologue 1 (MLH1) interacts with Escherichia coli MutL and MutS in vivo and in vitro: a simple genetic system to assay MLH1 function.
12508345 2003 Silencing-specific methylation and single nucleotide polymorphism of hMLH1 promoter in gastric carcinomas.
12496484 Renal cell carcinoma: taking care of business.
12496483 Mismatch repair gene mutations in renal cell carcinoma.
12494471 2003 Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12469220 2003 Mutation analysis of K-ras and beta-catenin genes related to O6-methylguanin-DNA methyltransferase and mismatch repair protein status in human gallbladder carcinoma.
12461746 2003 Methylation profile of the MLH1 promoter region and their relationship to colorectal carcinogenesis.
12419761 2002 Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review.
12414623 2002 Functional alterations of human exonuclease 1 mutants identified in atypical hereditary nonpolyposis colorectal cancer syndrome.
12402334 2002 Different molecular mechanisms underlie genomic deletions in the MLH1 Gene.
12384516 2002 Hypermethylation of HPP1 is associated with hMLH1 hypermethylation in gastric adenocarcinomas.
12373605 2002 Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.
12362047 2002 Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.
12209584 2002 Cellular effects of CPT-11 on colon carcinoma cells: dependence on p53 and hMLH1 status.
12203784 2002 Densely methylated MLH1 promoter correlates with decreased mRNA expression in sporadic colorectal cancers.
12200596 2002 Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic testing in hereditary non-polyposis colorectal cancer.
12177781 2002 Reduced Fhit expression is associated with mismatch repair deficiency in human advanced colorectal carcinoma.
12132870 2001 hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer.
12115348 2002 Microsatellite instability and mutation analysis of candidate genes in unselected sardinian patients with endometrial carcinoma.
12095971 2002 hMLH1 and hMSH2 gene mutation in Brazilian families with suspected hereditary nonpolyposis colorectal cancer.
12023887 2002 Ascorbate up-regulates MLH1 (Mut L homologue-1) and p73: implications for the cellular response to DNA damage.
12014680 Frequent LOH at hMLH1, a highly variable SNP in hMSH3, and negligible coding instability in ovarian cancer.
11999575 2002 Mismatch repair gene expression in malignant lymphoproliferative disorders of B-cell origin.
11948175 2002 Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha mismatch repair factor affect its ATPase activity, but not its ability to interact with hMutSalpha.
11920650 2002 Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain.
11910346 2002 Hereditary nonpolyposis colorectal cancer in young colorectal cancer patients: high-risk clinic versus population-based registry.
11897781 2002 Contribution of human mlh1 and pms2 ATPase activities to DNA mismatch repair.
11895912 2002 Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes, DNA repair enzymes, and response to treatment of childhood acute lymphoblastic leukemia.
11879922 2002 Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography.
11877377 2002 SMC1 is a downstream effector in the ATM/NBS1 branch of the human S-phase checkpoint.
11872960 2001 Promoter methylation status of the DNA repair genes hMLH1 and MGMT in gastric carcinoma and metaplastic mucosa.
11870161 2002 Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression.
11857745 2002 A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1.
11839723 2002 Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.
11809883 2002 hMutSalpha forms an ATP-dependent complex with hMutLalpha and hMutLbeta on DNA.
11793469 2002 Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms.
11793442 2002 Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.
11782355 2002 Mutational analysis of promoters of mismatch repair genes hMSH2 and hMLH1 in hereditary nonpolyposis colorectal cancer and early onset colorectal cancer patients: identification of three novel germ-line mutations in promoter of the hMSH2 gene.
11781295 2002 Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.
11754112 2002 Seven novel MLH1 and MSH2 germline mutations in hereditary nonpolyposis colorectal cancer.
11748856 2001 Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain.
11726306 2001 Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?
11691925 2001 Direct association of Bloom's syndrome gene product with the human mismatch repair protein MLH1.
11606497 2001 The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer.
11600610 2001 MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families.
11579115 2001 Molecular screening for hereditary nonpolyposis colorectal cancer: a prospective, population-based study.
11562928 2001 Motivations and psychosocial impact of genetic testing for HNPCC.
11555625 2001 Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae.
11524701 2001 The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas.
11474654 2001 Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma.
11429708 2001 HNPCC mutations in the human DNA mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes.
11427529 2001 The interaction of DNA mismatch repair proteins with human exonuclease I.
11389087 2001 Extensive somatic microsatellite mutations in normal human tissue.
11369138 2001 Contribution of germline MLH1 and MSH2 mutations to lobular carcinoma in situ of the breast.
11343035 2001 Germline characterization of early-aged onset of hereditary non-polyposis colorectal cancer.
11292842 2001 The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2.
11208710 2001 Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing.
11158177 2001 Germline mutation analysis of the transforming growth factor beta receptor type II (TGFBR2) and E-cadherin (CDH1) genes in early onset and familial colorectal cancer.
11139242 2001 Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes.
11104559 2000 Population carrier frequency of hMSH2 and hMLH1 mutations.
10928988 2000 MSH4 acts in conjunction with MLH1 during mammalian meiosis.
10882759 2000 Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients.
10783165 2000 BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures.
10777691 2000 Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds.
10713887 2000 Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach.
10671064 1998 Hereditary nonpolyposis coloretal cancer: identification of novel germline mutations in two kindreds not fulfulling the Amsterdam criteria. Mutations in brief no. 203. Online.
10660333 1998 hMLH1 mutations in hereditary nonpolyposis colorectal cancer kindreds. Mutations in brief no. 182. Online.
10627141 1998 Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability. Mutations in brief no. 157. Online.
10615123 2000 MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability.
10598809 1999 Missense mutations in hMLH1 associated with colorectal cancer.
10573010 Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2.
10480359 Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.
10413423 1999 Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer.
10386556 1999 Novel hMLH1 and hMSH2 germline mutations in African Americans with colorectal cancer.
10375096 1999 Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer.
10323887 1999 Microsatellite instability-a useful diagnostic tool to select patients at high risk for hereditary non-polyposis colorectal cancer: a study in different groups of patients with colorectal cancer.
10097147 1999 MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1.
10037723 1999 The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.
9927034 1999 Neurofibromatosis and early onset of cancers in hMLH1-deficient children.
9833759 1998 Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer.
9831355 1998 I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cancer.
9827806 1998 Crystal structure and ATPase activity of MutL: implications for DNA repair and mutagenesis.
9718327 1998 Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.
9611074 1998 DGGE screening of mutations in mismatch repair genes (hMSH2 and hMLH1) in 34 Swedish families with colorectal cancer.
9559627 1998 Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer.
9526167 A novel missense mutation in the DNA mismatch repair gene hMLH1 present among East Asians but not among Europeans.
9490293 1998 Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility.
9399661 1997 Germline hMSH2 and hMLH1 gene mutations in incomplete HNPCC families.
9326924 1997 A human compound heterozygote for two MLH1 missense mutations.
9311737 1997 Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.
9298827 1997 Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes.
9272156 1997 Hereditary nonpolyposis colorectal cancer: causative role of a germline missense mutation in the hMLH1 gene confirmed by the independent occurrence of the same somatic mutation in tumour tissue.
9259192 1997 Molecular basis of HNPCC: mutations of MMR genes.
9245993 1997 Reduced frequency of extracolonic cancers in hereditary nonpolyposis colorectal cancer families with monoallelic hMLH1 expression.
9218993 1997 Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes.
9111864 1997 Mutations predisposing to hereditary nonpolyposis colorectal cancer.
9087566 1997 MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis.
9067757 1997 Mutational analysis of the hMLH1 gene using an automated two-dimensional DNA typing system.
9048925 1997 Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria.
9032648 1997 Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer.
8993976 1997 Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.
8942985 1996 hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6.
8940269 1996 Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer.
8872463 1996 Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer.
8797773